Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN5
Variant:p.S1000P
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GEMIN5

NM_015465.5:p.S1000P

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

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

Ibrahim N et al.

Genes, 2023

Whole exome sequencing in dense families suggests genetic pleiotropy amongst Mendelian and complex neuropsychiatric syndromes.

Ganesh S et al.

Scientific Reports, 2022

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

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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."