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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
NBL1
Variant:
p.D140H
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NBL1
NM_005380.8:p.D140H
hg38:chr1:19657001 G>C
Frequencies & domains
Associated Papers
A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype.
Clain J et al.
Human Genetics,
2005
15744523 (PubMed
)
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