Varaico: Literature-Extracted Genetic Variants

Gene:GLE1
Variant:p.R603P
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GLE1

NM_001003722.2:p.R603P

Associated Papers

Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.

Cerino M et al.

Molecular Genetics & Genomic Medicine, 2020

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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."