Varaico: Literature-Extracted Genetic Variants

Gene:P4HB
Variant:p.V421I
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P4HB

NM_000918.4:p.V421I

Associated Papers

Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients.

Gonzalez-Perez P et al.

Gene, 2015

Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin (ITGA2B, ITGB3).

Peretz H et al.

Human Mutation, 2006

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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."