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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
PKD1
Variant:
p.R739delFs
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PKD1
NM_001009944.3:p.R739delFs
hg38:chr16:2114804 GC>G
Frequencies & domains
Associated Papers
Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene.
Viribay M et al.
Human Genetics,
1997
9402976 (PubMed
)
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