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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
SNX14
Variant:
p.K395R
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SNX14
NM_153816.6:p.K395R
hg38:chr6:85543685 T>C
Frequencies & domains
Associated Papers
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Akizu N et al.
Nature Genetics,
2015
25848753 (PubMed
)
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