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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC12A2

Variant:p.K992del1

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SLC12A2

NM_001046.3:p.K992del1

hg38:chr5:128177145 GAAA>G

Associated Papers

De Novo SLC12A2 Variant Presenting as Congenital Hearing Loss With Vestibular Areflexia.

Ludin K et al.

American Journal of Medical Genetics. Part A, 2025

40503591 (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."