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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SAFB2

Variant:p.V936A

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SAFB2

NM_014649.3:p.V936A

hg38:chr19:5587298 A>G

Associated Papers

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.

Frohne A et al.

Human Genetics, 2023

36445457 (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."