Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN2
Variant:p.I376V
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UBQLN2

NM_013444.4:p.I376V

Associated Papers

A meta-analysis of genetic variant pathogenicity and sex differences in UBQLN2-linked amyotrophic lateral sclerosis and frontotemporal dementia.

Thumbadoo KM et al.

Neurobiology of Disease, 2025

Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.

Ruf WP et al.

Brain Communications, 2023

37223130 (PubMed )
Supplement: fcad152_supplementary_data.pdf

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing.

Kim HJ et al.

Neurobiology of Aging, 2016

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