Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN5
Variant:p.I988F
Back to variants list

GEMIN5

NM_015465.5:p.I988F

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

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

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

Ibrahim N et al.

Genes, 2023

36980979 (PubMed )
Supplement: genes-14-00707-s001.zip › Table_S2.xlsx › Sheet1

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."