Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.T165P
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HPDL

NM_032756.4:p.T165P

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

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
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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."