Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.Q342*
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HPDL

NM_032756.4:p.Q342*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

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

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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."