Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.A790fs
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OCRL

NM_000276.4:p.A790fs

Associated Papers

Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.

Zhang Y et al.

Bmc Medical Genomics, 2021

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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."