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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
PSAP
Variant:
p.C241G
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PSAP
NM_002778.4:p.C241G
hg38:chr10:71825893 A>C
Frequencies & domains
Associated Papers
Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4.
Kaisaki PJ et al.
Diabetes,
1997
9032114 (PubMed
)
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