Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN5
Variant:p.Y1282H
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GEMIN5

NM_015465.5:p.Y1282H

Associated Papers

GEMIN5 and neurodevelopmental diseases: From functional insights to disease perception.

Martinez-Salas E et al.

Neural Regeneration Research, 2026

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

Zhang J et al.

Brain and Behavior, 2024

Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families.

Zhang X et al.

Journal of Human Genetics, 2023

Structural basis for Gemin5 decamer-mediated mRNA binding.

Guo Q et al.

Nature Communications, 2022

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5.

Rajan DS et al.

Frontiers in Cell and Developmental Biology, 2022

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Kour S et al.

Nature Communications, 2021

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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."