Varaico: Literature-Extracted Genetic Variants

Gene:VPS13D
Variant:p.D1054A
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VPS13D

NM_015378.4:p.D1054A

Associated Papers

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Diagnosed

Clinical, neuroimaging and genetic findings in children with hereditary ataxia: single center study.

Bildirici Y et al.

Molecular Biology Reports, 2023

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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."