Varaico: Literature-Extracted Genetic Variants

Gene:WDR35
Variant:p.R113*
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WDR35

NM_020779.4:p.R113*

Associated Papers

Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35.

Walczak-Sztulpa J et al.

American Journal of Medical Genetics. Part A, 2020

Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations.

Walczak-Sztulpa J et al.

Birth Defects Research, 2018

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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."