Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.W157R
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HPDL

NM_032756.4:p.W157R

Associated Papers

HPDL Biallelic Variants in Cerebral Palsy and Childhood-Onset Hereditary Spastic Paraplegia: Human and Zebrafish Insights.

Mero S et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

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

Two novel heterozygous HPDL variants in a Chinese family with a neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities.

Ma Y et al.

Gene, 2025

Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL.

Morgan NV et al.

Brain Communications, 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."