Varaico: Literature-Extracted Genetic Variants

Gene:WASF1
Variant:p.P294S
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WASF1

NM_003931.3:p.P294S

Associated Papers

High-performance liquid chromatography under partially denaturing conditions (dHPLC) is a fast and cost-effective method for screening molecular defects: four novel mutations found in X-linked chronic granulomatous disease.

de Oliveira-Junior EB et al.

Scandinavian Journal of Immunology, 2012

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.

Orten DJ et al.

Human Mutation, 2008

Rapid genotyping of common MeCP2 mutations with an electronic DNA microchip using serial differential hybridization.

Thistlethwaite WA et al.

The Journal of Molecular Diagnostics : Jmd, 2003

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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."