Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.A91P
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HPDL

NM_032756.4:p.A91P

Associated Papers

HPDL Variant Type Correlates With Clinical Disease Onset and Severity.

Lee EH et al.

Annals of Clinical and Translational Neurology, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

Case Report: Two Families With HPDL Related Neurodegeneration.

Micule I et al.

Frontiers in Genetics, 2022

Novel bi-allelic HPDL variants cause hereditary spastic paraplegia in a Chinese patient.

Yu H et al.

Clinical Genetics, 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."