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. |
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| 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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| ISSN: | 1432-1203 |
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| DOI: | 10.1007/s00439-024-02645-6 |
