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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYO1A

Variant:p.E143_A144delFs

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MYO1A

NM_005379.4:p.E143_A144delFs

hg38:chr12:57047301 ACCCT>A

Associated Papers

Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss.

Vona B et al.

Molecular Syndromology, 2014

24550759 (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."