Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.K2078Q
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ABCA4

NM_000350.3:p.K2078Q

Associated Papers

Prognostication in Stargardt Disease Using Fundus Autofluorescence: Improving Patient Care.

Daich Varela M et al.

Ophthalmology, 2023

37331482 (PubMed )
Supplement: mmc1.pdf

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
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