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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
HSPA6
Variant:
p.V221M
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HSPA6
NM_002155.5:p.V221M
hg38:chr1:161525319 G>A
Frequencies & domains
Associated Papers
A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy.
Oda T et al.
Human Genome Variation,
2015
27081534 (PubMed
)
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