Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.Q510R
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OCRL

NM_000276.4:p.Q510R

Associated Papers

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.

Satre V et al.

American Journal of Human Genetics, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."