Varaico: Literature-Extracted Genetic Variants

Gene:ERGIC1
Variant:p.G261D
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ERGIC1

NM_001031711.3:p.G261D

Associated Papers

Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.

Marconi C et al.

Clinical Genetics, 2021

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

Pehlivan D et al.

American Journal of Human Genetics, 2019

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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."