Varaico: Literature-Extracted Genetic Variants

Gene:CWH43
Variant:p.L533*
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CWH43

NM_025087.3:p.L533*

Associated Papers

Low prevalence of CWH43 variants among Finnish and Norwegian idiopathic normal pressure hydrocephalus patients: a cohort-based observational study.

Räsänen J et al.

Fluids and Barriers of the Cns, 2025

Risk Variants Associated With Normal Pressure Hydrocephalus: Genome-Wide Association Study in the FinnGen Cohort.

Räsänen J et al.

Neurology, 2024

CWH43 Variants Are Associated With Disease Risk and Clinical Phenotypic Measures in Patients With Normal Pressure Hydrocephalus.

Tipton PW et al.

Neurology. Genetics, 2023

Increased plasmin-mediated proteolysis of L1CAM in a mouse model of idiopathic normal pressure hydrocephalus.

Yang D et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

Deletions in CWH43 cause idiopathic normal pressure hydrocephalus.

Yang HW et al.

Embo Molecular Medicine, 2021

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D et al.

Nature, 2017

28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1
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