Varaico: Literature-Extracted Genetic Variants

Gene:RIPK4
Variant:p.G163D
Back to variants list

RIPK4

NM_020639.3:p.G163D

Associated Papers

RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis.

Fortugno P et al.

Human Molecular Genetics, 2022

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

Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome.

Gripp KW et al.

American Journal of Medical Genetics. Part A, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."