Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.Q279*
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HPDL

NM_032756.4:p.Q279*

Associated Papers

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

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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