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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
STAT1
Variant:
p.V456G
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STAT1
NM_007315.4:p.V456G
hg38:chr2:190983721 A>C
Frequencies & domains
Associated Papers
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
Piotrowski A et al.
Nature Genetics,
2014
24362817 (PubMed
)
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