Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.T175fs
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HPDL

NM_032756.4:p.T175fs

Associated Papers

HPDL Variant Type Correlates With Clinical Disease Onset and Severity.

Lee EH et al.

Annals of Clinical and Translational Neurology, 2025

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."