Varaico: Literature-Extracted Genetic Variants

Gene:C9orf72
Variant:p.H43R
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C9orf72

NM_018325.5:p.H43R

Associated Papers

Small junction, big problems: Neuromuscular junction pathology in mouse models of amyotrophic lateral sclerosis (ALS).

Alhindi A et al.

Journal of Anatomy, 2022

The Role of VCP Mutations in the Spectrum of Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.

Scarian E et al.

Frontiers in Neurology, 2022

Comprehensive analysis to explain reduced or increased SOD1 enzymatic activity in ALS patients and their relatives.

Keskin I et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2017

28325066 (PubMed )
Supplement: supplement_1.docx
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