Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.G140R
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HPDL

NM_032756.4:p.G140R

Associated Papers

HPDL Variant Type Correlates With Clinical Disease Onset and Severity.

Lee EH et al.

Annals of Clinical and Translational Neurology, 2025

40368591 (PubMed )
Supplement: ACN3-12-1360-s001.pdf

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG83

A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.

Kojima F et al.

Neurogenetics, 2024

Case Report: Two Families With HPDL Related Neurodegeneration.

Micule I et al.

Frontiers in Genetics, 2022

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Wiessner M et al.

Brain : a Journal of Neurology, 2021

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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."