Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN2
Variant:p.S346C
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UBQLN2

NM_013444.4:p.S346C

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

First case of an UBQLN2 gene mutation causing frontotemporal dementia preceded by adult onset psychiatric symptoms.

Raggi A et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

Boonsawat P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30842647 (PubMed )
Supplement: 41436_2019_464_MOESM2_ESM.xlsx › Summary

Key role of UBQLN2 in pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementia.

Renaud L et al.

Acta Neuropathologica Communications, 2019

Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients.

Dillen L et al.

Neurobiology of Aging, 2013

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."