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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
OCRL
Variant:
p.P495Q
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OCRL
NM_000276.4:p.P495Q
hg38:chrX:129569281 C>A
Frequencies & domains
Associated Papers
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
Hichri H et al.
Human Mutation,
2011
21031565 (PubMed
)
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