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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AFF3

Variant:p.A258V

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AFF3

NM_001025108.2:p.A258V

hg38:chr2:100006807 G>A

Associated Papers

Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants.

Inoue Y et al.

Clinical Genetics, 2023

36576140 (PubMed )

A novel variant in AFF3 underlying isolated syndactyly.

Khan H et al.

Clinical Genetics, 2023

36273379 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."