Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pat...
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework
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Publisher
Hoboken: Hindawi
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Language
English
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Hoboken: Hindawi
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Contents
Biallelic variants in ABCA4 cause Stargardt disease (STGD1), the most frequent heritable macular disease. Determination of the pathogenicity of variants in ABCA4 proves to be difficult due to (1) the high number of benign and pathogenic variants in the gene; (2) the presence of many rare ABCA4 variants; (3) the presence of complex alleles for which...
Alternative Titles
Full title
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11918811
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11918811
Other Identifiers
ISSN
1059-7794
E-ISSN
1098-1004
DOI
10.1155/2023/6815504
