Varaico: Literature-Extracted Genetic Variants

Gene:DDHD1
Variant:p.R477*
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DDHD1

NM_001160148.2:p.R477*

Associated Papers

A novel frameshift DDHD1 mutation in a patient with hereditary spastic paraplegia type 28: Case report and review of the literature.

Pinheiro RG et al.

Parkinsonism & Related Disorders, 2024

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.

D'Amore A et al.

Frontiers in Neurology, 2018

Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28.

Mignarri A et al.

Journal of the Neurological Sciences, 2016

A Novel Missense Mutation of the DDHD1 Gene Associated with Juvenile Amyotrophic Lateral Sclerosis.

Wu C et al.

Frontiers in Aging Neuroscience, 2016

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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."