Varaico: Literature-Extracted Genetic Variants

Gene:DDHD2
Variant:p.C683S
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DDHD2

NM_015214.3:p.C683S

Associated Papers

Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia.

Chou YT et al.

Annals of Clinical and Translational Neurology, 2023

Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.

Jia X et al.

Annals of Neurology, 2018

29908077 (PubMed )
Supplement: ANA-84-51-s004.pdf

The Enigmatic Role of GBA2 in Controlling Locomotor Function.

Woeste MA et al.

Frontiers in Molecular Neuroscience, 2017

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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."