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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
GJA1
Variant:
p.L10L
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GJA1
NM_000165.5:p.L10L
hg38:chr6:121446877 C>T
Frequencies & domains
Associated Papers
Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness.
Liu XZ et al.
Human Molecular Genetics,
2001
11741837 (PubMed
)
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