Varaico: Literature-Extracted Genetic Variants

Gene:ALS2
Variant:p.V1189delFs
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ALS2

NM_020919.4:p.V1189delFs

Associated Papers

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

The expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients.

Alves De Siqueira Carvalho A et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022

ALS2-Related Motor Neuron Diseases: From Symptoms to Molecules.

Miceli M et al.

Biology, 2022

35053075 (PubMed )
Supplement: biology-11-00077-s001.zip › supplementary.pdf

Alsin related disorders: literature review and case study with novel mutations.

Flor-de-Lima F et al.

Case Reports in Genetics, 2014

A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis.

Luigetti M et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."