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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
GSDME
Variant:
p.F244C
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GSDME
NM_001127453.2:p.F244C
hg38:chr7:24710355 A>C
Frequencies & domains
Associated Papers
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
Collin RW et al.
Human Mutation,
2007
17373699 (PubMed
)
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