Varaico: Literature-Extracted Genetic Variants

Gene:GLDN
Variant:p.N309_P310delFs
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GLDN

NM_181789.4:p.N309_P310delFs

Associated Papers

Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).

Wambach JA et al.

Human Mutation, 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."