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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
STIM1
Variant:
p.R429P
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STIM1
NM_001382567.1:p.R429P
hg38:chr11:4083310 G>C
Frequencies & domains
Associated Papers
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
Morin G et al.
Human Mutation,
2014
25044882 (PubMed
)
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