Varaico: Literature-Extracted Genetic Variants

Gene:ALS2
Variant:p.I1000delFs
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ALS2

NM_020919.4:p.I1000delFs

Associated Papers

Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation.

Zhang Q et al.

Bmc Medical Genomics, 2024

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

Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.

Helal M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.

Daud S et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2016

A novel mutation in ALS2 associated with severe and progressive infantile onset of spastic paralysis.

Tariq H et al.

Journal of Neurogenetics, 0

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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."