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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
MYO1A
Variant:
p.Y117insFs
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MYO1A
NM_005379.4:p.Y117insFs
hg38:chr12:57047383 T>TA
Frequencies & domains
Associated Papers
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
Eisenberger T et al.
Human Mutation,
2014
24616153 (PubMed
)
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