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PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner.

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Title: PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner.
Authors: Zeng B; Shenzhen Aier Eye Hospital, Aier Eye Hospital, Jinan University, Shenzhen, 518031, Guangdong, China.; Shenzhen Aier Ophthalmic Technology Institute, Shenzhen, 518031, Guangdong, China.; Department of Ophthalmology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China., Liu DC; Shenzhen Aier Eye Hospital, Aier Eye Hospital, Jinan University, Shenzhen, 518031, Guangdong, China.; Shenzhen Aier Ophthalmic Technology Institute, Shenzhen, 518031, Guangdong, China., Huang JG; Shenzhen Aier Eye Hospital, Aier Eye Hospital, Jinan University, Shenzhen, 518031, Guangdong, China.; Shenzhen Aier Ophthalmic Technology Institute, Shenzhen, 518031, Guangdong, China., Xia XB; Eye Center of Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China. xbxia21@163.com., Qin B; Shenzhen Aier Eye Hospital, Aier Eye Hospital, Jinan University, Shenzhen, 518031, Guangdong, China. qinbozf@126.com.; Shenzhen Aier Ophthalmic Technology Institute, Shenzhen, 518031, Guangdong, China. qinbozf@126.com.; Aier School of Ophthalmology, Central South University, Changsha, Hunan, China. qinbozf@126.com.
Source: Human genetics [Hum Genet] 2024 Mar; Vol. 143 (3), pp. 331-342. Date of Electronic Publication: 2024 Mar 13.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner.
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  Data: <searchLink fieldCode="AU" term="%22Zeng+B%22">Zeng B</searchLink>; Shenzhen Aier Eye Hospital, Aier Eye Hospital, Jinan University, Shenzhen, 518031, Guangdong, China.; Shenzhen Aier Ophthalmic Technology Institute, Shenzhen, 518031, Guangdong, China.; Department of Ophthalmology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China.<br /><searchLink fieldCode="AU" term="%22Liu+DC%22">Liu DC</searchLink>; Shenzhen Aier Eye Hospital, Aier Eye Hospital, Jinan University, Shenzhen, 518031, Guangdong, China.; Shenzhen Aier Ophthalmic Technology Institute, Shenzhen, 518031, Guangdong, China.<br /><searchLink fieldCode="AU" term="%22Huang+JG%22">Huang JG</searchLink>; Shenzhen Aier Eye Hospital, Aier Eye Hospital, Jinan University, Shenzhen, 518031, Guangdong, China.; Shenzhen Aier Ophthalmic Technology Institute, Shenzhen, 518031, Guangdong, China.<br /><searchLink fieldCode="AU" term="%22Xia+XB%22">Xia XB</searchLink>; Eye Center of Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China. xbxia21@163.com.<br /><searchLink fieldCode="AU" term="%22Qin+B%22">Qin B</searchLink>; Shenzhen Aier Eye Hospital, Aier Eye Hospital, Jinan University, Shenzhen, 518031, Guangdong, China. qinbozf@126.com.; Shenzhen Aier Ophthalmic Technology Institute, Shenzhen, 518031, Guangdong, China. qinbozf@126.com.; Aier School of Ophthalmology, Central South University, Changsha, Hunan, China. qinbozf@126.com.
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  Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2024 Mar; Vol. 143 (3), pp. 331-342. <i>Date of Electronic Publication: </i>2024 Mar 13.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE
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      – Type: doi
        Value: 10.1007/s00439-024-02645-6
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      – Code: eng
        Text: English
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        StartPage: 331
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      – TitleFull: PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner.
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              Text: 2024 Mar
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              Value: 143
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