Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN5
Variant:p.P594R
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GEMIN5

NM_015465.5:p.P594R

Associated Papers

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

Martinez-Salas E et al.

Neural Regeneration Research, 2026

Function and dysfunction of GEMIN5: understanding a novel neurodevelopmental disorder.

Nelson CH et al.

Neural Regeneration Research, 2024

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

Zhang J et al.

Brain and Behavior, 2024

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

Exome sequencing in families with chronic central serous chorioretinopathy.

Schellevis RL et al.

Molecular Genetics & Genomic Medicine, 2019

30724488 (PubMed )
Supplement: MGG3-7-na-s005.xlsx › Family_15
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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."