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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLE1

Variant:p.G597D

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GLE1

NM_001003722.2:p.G597D

hg38:chr9:128537999 G>A

Associated Papers

Biallelic variants in GLE1 with survival beyond neonatal period.

Yates TM et al.

Clinical Genetics, 2020

32954510 (PubMed )

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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."