Varaico: Literature-Extracted Genetic Variants

Gene:P4HB
Variant:p.R213W
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P4HB

NM_000918.4:p.R213W

Associated Papers

Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

Sergeev YV et al.

Human Molecular Genetics, 2010

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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."