Varaico: Literature-Extracted Genetic Variants

Gene:COL25A1
Variant:p.G500*
Back to variants list

COL25A1

NM_198721.4:p.G500*

Associated Papers

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.

Natera-de Benito D et al.

Human Mutation, 2022

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."