Varaico: Literature-Extracted Genetic Variants

Gene:CYP2U1
Variant:p.R178T
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CYP2U1

NM_183075.3:p.R178T

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

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

Schlüter A et al.

Genome Medicine, 2023

37679823 (PubMed )
Supplement: 13073_2023_1214_MOESM1_ESM.pdf

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.

Schlüter A et al.

Neurology, 2022

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