Varaico: Literature-Extracted Genetic Variants

Gene:DDHD2
Variant:p.R329*
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DDHD2

NM_015214.3:p.R329*

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG54

Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.

Yahia A et al.

European Journal of Human Genetics : Ejhg, 2024

Identification and analyses of exonic and copy number variants in spastic paraplegia.

Shafique A et al.

Scientific Reports, 2024

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.

Méreaux JL et al.

Brain : a Journal of Neurology, 2022

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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."