Varaico: Literature-Extracted Genetic Variants

Gene:CPT1C
Variant:p.P175_V176insFs
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CPT1C

NM_001199753.2:p.P175_V176insFs

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
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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."