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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VPS33B

Variant:p.R523Q

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VPS33B

NM_018668.5:p.R523Q

hg38:chr15:91000503 C>T

Associated Papers

The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.

De Matteis MA et al.

Nature Reviews. Nephrology, 2017

28669993 (PubMed )

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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."