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Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay.

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Title: Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay.
Authors: Napier MP; GeneDx LLC, Gaithersburg, MD 20877, USA. Electronic address: mnapier@genedx.com., Ryan E; GeneDx LLC, Gaithersburg, MD 20877, USA., Reich A; GeneDx LLC, Gaithersburg, MD 20877, USA., Suhl JA; GeneDx LLC, Gaithersburg, MD 20877, USA., Masser-Frye D; Rady Children's Hospital, Division of Genetics, San Diego, CA 92123, USA., Jones M; Rady Children's Hospital, Division of Genetics, San Diego, CA 92123, USA., Beaudreau C; Children's Hospital of Georgia, Department of Pediatrics, Augusta, GA 30912, USA., Robin N; University of Alabama at Birmingham, Department of Genetics, Birmingham, AL 35294-0019, USA., Goodloe D; University of Alabama at Birmingham, Department of Genetics, Birmingham, AL 35294-0019, USA., Folk L; GeneDx LLC, Gaithersburg, MD 20877, USA., Morrow MM; GeneDx LLC, Gaithersburg, MD 20877, USA., Carere DA; GeneDx LLC, Gaithersburg, MD 20877, USA.
Source: HGG advances [HGG Adv] 2025 Apr 10; Vol. 6 (2), pp. 100408. Date of Electronic Publication: 2025 Jan 20.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay.
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  Data: <searchLink fieldCode="AU" term="%22Napier+MP%22">Napier MP</searchLink>; GeneDx LLC, Gaithersburg, MD 20877, USA. Electronic address: mnapier@genedx.com.<br /><searchLink fieldCode="AU" term="%22Ryan+E%22">Ryan E</searchLink>; GeneDx LLC, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Reich+A%22">Reich A</searchLink>; GeneDx LLC, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Suhl+JA%22">Suhl JA</searchLink>; GeneDx LLC, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Masser-Frye+D%22">Masser-Frye D</searchLink>; Rady Children's Hospital, Division of Genetics, San Diego, CA 92123, USA.<br /><searchLink fieldCode="AU" term="%22Jones+M%22">Jones M</searchLink>; Rady Children's Hospital, Division of Genetics, San Diego, CA 92123, USA.<br /><searchLink fieldCode="AU" term="%22Beaudreau+C%22">Beaudreau C</searchLink>; Children's Hospital of Georgia, Department of Pediatrics, Augusta, GA 30912, USA.<br /><searchLink fieldCode="AU" term="%22Robin+N%22">Robin N</searchLink>; University of Alabama at Birmingham, Department of Genetics, Birmingham, AL 35294-0019, USA.<br /><searchLink fieldCode="AU" term="%22Goodloe+D%22">Goodloe D</searchLink>; University of Alabama at Birmingham, Department of Genetics, Birmingham, AL 35294-0019, USA.<br /><searchLink fieldCode="AU" term="%22Folk+L%22">Folk L</searchLink>; GeneDx LLC, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Morrow+MM%22">Morrow MM</searchLink>; GeneDx LLC, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Carere+DA%22">Carere DA</searchLink>; GeneDx LLC, Gaithersburg, MD 20877, USA.
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  Data: <searchLink fieldCode="JN" term="%22101772885%22">HGG advances</searchLink> [HGG Adv] 2025 Apr 10; Vol. 6 (2), pp. 100408. <i>Date of Electronic Publication: </i>2025 Jan 20.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+Inc%22">Elsevier Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101772885 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2666-2477 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2226662477%22">26662477 </searchLink><i>NLM ISO Abbreviation: </i>HGG Adv <i>Subsets: </i>MEDLINE
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