Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN5
Variant:p.Y958H
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GEMIN5

NM_015465.5:p.Y958H

Associated Papers

Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies.

Zhang J et al.

Brain and Behavior, 2024

38773790 (PubMed )
Supplement: BRB3-14-e3535-s001.xlsx › Sheet1

A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy.

Ibrahim N et al.

Genes, 2023

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Kour S et al.

Nature Communications, 2021

33963192 (PubMed )
Supplement: 41467_2021_22627_MOESM1_ESM.pdf
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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."