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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
CLDN16
Variant:
p.L98delFs
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CLDN16
NM_006580.4:p.L98delFs
hg38:chr3:190404835 CCT>C
Frequencies & domains
Associated Papers
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.
Amar A et al.
Human Genetics,
2019
30778725 (PubMed
)
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