Varaico: Literature-Extracted Genetic Variants

Gene:ZC4H2
Variant:p.V75_M76Splc
Back to variants list

ZC4H2

NM_018684.4:p.V75_M76Splc

Associated Papers

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Frints SGM et al.

Human Mutation, 2019

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."