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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
ITGB1
Variant:
p.V236F
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ITGB1
NM_002211.4:p.V236F
hg38:chr10:32925951 C>A
Frequencies & domains
Associated Papers
Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation.
Allende LM et al.
Human Mutation,
2001
11180601 (PubMed
)
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