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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
PDIA6
Variant:
p.L175P
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PDIA6
NM_005742.4:p.L175P
hg38:chr2:10791855 A>G
Frequencies & domains
Associated Papers
A point mutation in the Pdia6 gene results in loss of pancreatic β-cell identity causing overt diabetes.
Chhabra NF et al.
Molecular Metabolism,
2021
34487921 (PubMed
)
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