Varaico: Literature-Extracted Genetic Variants

Gene:DDHD1
Variant:p.S305fs
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DDHD1

NM_001160148.2:p.S305fs

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

Ddhd1 knockout mouse as a model of locomotive and physiological abnormality in familial spastic paraplegia.

Morikawa T et al.

Bioscience Reports, 2021

A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia.

Miura S et al.

European Journal of Medical Genetics, 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."