Varaico: Literature-Extracted Genetic Variants

Gene:CPT1C
Variant:p.Q76*
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CPT1C

NM_001199753.2:p.Q76*

Associated Papers

Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia.

Zhu R et al.

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

Expanding molecular and clinical spectrum of CPT1C-associated hereditary spastic paraplegia (SPG73)-a case series.

Brooks AK 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 › SPG73

Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children.

Wang J et al.

Developmental Medicine and Child Neurology, 2023

A novel variant of SPAST in a pedigree with pure hereditary spastic paraplegia in Yunnan Province.

Shen T et al.

Annals of Translational Medicine, 2022

Sensing of nutrients by CPT1C regulates late endosome/lysosome anterograde transport and axon growth.

Palomo-Guerrero M et al.

Elife, 2019

A novel CPT1C variant causes pure hereditary spastic paraplegia with benign clinical course.

Hong D et al.

Annals of Clinical and Translational Neurology, 2019

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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."