Varaico: Literature-Extracted Genetic Variants

Gene:GLE1
Variant:p.S693F
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GLE1

NM_001003722.2:p.S693F

Associated Papers

Genetic analysis of ALS cases in the isolated island population of Malta.

Borg R et al.

European Journal of Human Genetics : Ejhg, 2021

Biallelic variants in GLE1 with survival beyond neonatal period.

Yates TM et al.

Clinical Genetics, 2020

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

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

Said E et al.

American Journal of Medical Genetics. Part A, 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."