Article

Association of TRMT2B Gene Variants with Juvenile Amyotrophic Lateral Sclerosis

2022-03-28

Abstract excerpt

<title>Abstract</title> <p>Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease, which is characterized by progressive degeneration of motor neurons and demonstrates high clinical heterogeneity and complex genetic architecture. We identified a variation within <italic>TRMT2B</italic> (c.1356G > T; p.K452N) to be associated with ALS in a family comprising two patients with juvenile ALS. Then, t...

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Literature Corpus work: bec473d4-c9aa-5523-a996-bac9f98bdc49
DOI: 10.21203/rs.3.rs-1478039/v1

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