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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
PTCH1
Variant:
p.N1191Y
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PTCH1
NM_000264.5:p.N1191Y
hg38:chr9:95449302 T>A
Frequencies & domains
Associated Papers
Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients.
Fujii K et al.
Human Mutation,
2003
12655573 (PubMed
)
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