Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.M1T
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SOD1

NM_000454.5:p.M1T

Associated Papers

Novel and rare variants in amyotrophic lateral sclerosis genes identified in Malaysian patients.

Zulhairy-Liong NA et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025

Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.

Libonati L et al.

Journal of Neurology, 2024

The ATP Synthase Deficiency in Human Diseases.

Galber C et al.

Life (basel, Switzerland), 2021

Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay.

Guissart C et al.

Scientific Reports, 2020

33244158 (PubMed )
Supplement: 41598_2020_77716_MOESM1_ESM.xlsx › Supplementary_Table_S1
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