Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN5
Variant:p.Y1286N
Back to variants list

GEMIN5

NM_015465.5:p.Y1286N

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

Structural basis for Gemin5 decamer-mediated mRNA binding.

Guo Q et al.

Nature Communications, 2022

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Kour S et al.

Nature Communications, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."