Varaico: Literature-Extracted Genetic Variants

Gene:RIPK4
Variant:p.R618H
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RIPK4

NM_020639.3:p.R618H

Associated Papers

A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.

Dinçer T et al.

American Journal of Medical Genetics. Part A, 2021

Crystal Structure of Ripk4 Reveals Dimerization-Dependent Kinase Activity.

Huang CS et al.

Structure (london, England : 1993), 2018

Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.

Busa T et al.

American Journal of Medical Genetics. Part A, 2017

Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.

Leslie EJ et al.

American Journal of Medical Genetics. Part A, 2015

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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."