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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
PLCE1
Variant:
p.P382delFs
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PLCE1
NM_016341.4:p.P382delFs
hg38:chr10:94032191 CG>C
Frequencies & domains
Associated Papers
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
Hinkes B et al.
Nature Genetics,
2006
17086182 (PubMed
)
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