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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
SLC6A7
Variant:
p.V60insFs
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SLC6A7
NM_014228.5:p.V60insFs
hg38:chr5:150194872 G>GC
Frequencies & domains
Associated Papers
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.
Höglund P et al.
Human Mutation,
1998
9554749 (PubMed
)
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