Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN2
Variant:p.M392I
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UBQLN2

NM_013444.4:p.M392I

Associated Papers

A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant.

Watanabe K et al.

Journal of Human Genetics, 2025

40841583 (PubMed )
Supplement: 10038_2025_1392_MOESM1_ESM.pdf

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

Two new cases with the UBQLN2 gene mutation in Han Chinese.

He S et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024

No Evidence for Pathogenic Role of UBQLN2 Mutations in Sporadic Amyotrophic Lateral Sclerosis in the Mainland Chinese Population.

Huang X et al.

Plos One, 2017

The distinct genetic pattern of ALS in Turkey and novel mutations.

Özoğuz A et al.

Neurobiology of Aging, 2015

Unraveling the multifaceted insights into amyotrophic lateral sclerosis: Genetic underpinnings, pathogenesis, and therapeutic horizons.

Sharma R et al.

Mutation Research. Reviews in Mutation Research, 0

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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."