Varaico: Literature-Extracted Genetic Variants

Gene:GLDN
Variant:p.P121_I122Splc
Back to variants list

GLDN

NM_181789.4:p.P121_I122Splc

Associated Papers

Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors' Management.

McAdam A et al.

American Journal of Medical Genetics. Part A, 2025

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."