Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN5
Variant:p.L1310_S1311delFs
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GEMIN5

NM_015465.5:p.L1310_S1311delFs

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

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

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."