Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.V1673Splc
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ABCA4

NM_000350.3:p.V1673Splc

Associated Papers

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M et al.

Scientific Reports, 2022

36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1

A novel statistical method for interpreting the pathogenicity of rare variants.

Wang J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S6_ABCA4_variants

Macular function and morphologic features in juvenile stargardt disease: longitudinal study.

Testa F et al.

Ophthalmology, 2014

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