Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.W497*
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OCRL

NM_000276.4:p.W497*

Associated Papers

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.

Recker F et al.

Pediatric Nephrology (berlin, Germany), 2015

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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."