Varaico: Literature-Extracted Genetic Variants

Gene:RIPK4
Variant:p.I121N
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RIPK4

NM_020639.3:p.I121N

Associated Papers

Identification of novel RIPK4 variants in a Chinese patient with Arthrogryposis Multiplex Congenita (AMC).

Lu YL et al.

Italian Journal of Pediatrics, 2025

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

Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions.

Kwa MQ et al.

Cellular Signalling, 2015

Receptor-interacting protein kinase 4 and interferon regulatory factor 6 function as a signaling axis to regulate keratinocyte differentiation.

Kwa MQ et al.

The Journal of Biological Chemistry, 2014

Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.

Kalay E et al.

American Journal of Human Genetics, 2012

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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."