Varaico: Literature-Extracted Genetic Variants

Gene:FAM90A1
Variant:p.A234E
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FAM90A1

NM_018088.3:p.A234E

Associated Papers

A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.

Zhu Y et al.

European Journal of Human Genetics : Ejhg, 2024

38627542 (PubMed )
Supplement: 41431_2024_1573_MOESM3_ESM.xlsx › Sheet1

Multi-omics comparison of malignant and normal uveal melanocytes reveals molecular features of uveal melanoma.

Gentien D et al.

Cell Reports, 2023

37708024 (PubMed )
Supplement: NIHMS1933915-supplement-2.xlsx › Supp_table_1
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