Varaico: Literature-Extracted Genetic Variants

Gene:IGFALS
Variant:p.L8Q
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IGFALS

NM_004970.3:p.L8Q

Associated Papers

Comprehensive in silico analysis and molecular dynamics of the superoxide dismutase 1 (SOD1) variants related to amyotrophic lateral sclerosis.

Pereira GRC et al.

Plos One, 2021

33630959 (PubMed )
Supplement: pone.0247841.s001.docx

Molecular mechanisms underlying the impact of mutations in SOD1 on its conformational properties associated with amyotrophic lateral sclerosis as revealed with molecular modelling.

Alemasov NA et al.

Bmc Structural Biology, 2018

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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