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A meta-analysis of genetic variant pathogenicity and sex differences in<i>UBQLN2</i>-linked amyotrophic lateral sclerosis and frontotemporal dementia

2024-10-27

Abstract excerpt

Ubiquilin 2, encoded by the X-linked UBQLN2 gene, is a ubiquitin-binding quality control protein. Pathogenic UBQLN2 genetic variants cause X-linked dominant amyotrophic lateral sclerosis and/or frontotemporal dementia (ALS/FTD), however, clinical phenotypes from these variants show striking inter- and intra-familial heterogeneity. Further, there are many UBQLN2 variants whose significance to disease is uncertain....

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Literature Corpus work
f71974b6-c7d2-59c3-990e-4a7273621636
DOI
10.1101/2024.10.25.24316165
Open publication

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A meta-analysis of genetic variant pathogenicity and sex differences in<i>UBQLN2</i>-linked amyotrophic lateral sclerosis and frontotemporal dementiaDOI 10.1101/2024.10.25.24316165
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