Varaico: Literature-Extracted Genetic Variants

Gene:CYP2U1
Variant:p.I261_C262delFs
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CYP2U1

NM_183075.3:p.I261_C262delFs

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG56

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

Durand CM et al.

Human Mutation, 2018

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

Kumar KR et al.

Neurogenetics, 2016

Clinico-Investigative Profile of Hereditary Spastic Paraplegia in Children.

Kamate M et al.

Annals of Indian Academy of Neurology, 0

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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."