Varaico: Literature-Extracted Genetic Variants

Gene:RIPK4
Variant:p.E359*
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RIPK4

NM_020639.3:p.E359*

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

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

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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."