Varaico: Literature-Extracted Genetic Variants

Gene:DDHD2
Variant:p.Y99*
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DDHD2

NM_015214.3:p.Y99*

Associated Papers

DDHD2 provides a flux of saturated fatty acids for neuronal energy and function.

Saber SH et al.

Nature Metabolism, 2025

41028912 (PubMed )
Supplement: 42255_2025_1367_MOESM6_ESM.xlsx › DDHD2_mutations

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

Case report: Novel compound heterozygous missense mutations in the DDHD2 gene in a Chinese patient associated with spastic paraplegia type 54.

Xu X et al.

Frontiers in Pediatrics, 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."