Varaico: Literature-Extracted Genetic Variants

Gene:CWH43
Variant:p.K669fs
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CWH43

NM_001286791.2:p.K669fs

Associated Papers

A role for mutations in AK9 and other genes affecting ependymal cells in idiopathic normal pressure hydrocephalus.

Yang HW et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

p53 mitigates the effects of oncogenic HRAS in urothelial cells via the repression of MCOLN1.

Jung J et al.

Iscience, 2021

34222845 (PubMed )
Supplement: mmc6.xlsx › Supplementary_Table_5

Deletions in CWH43 cause idiopathic normal pressure hydrocephalus.

Yang HW et al.

Embo Molecular Medicine, 2021

33459505 (PubMed )
Supplement: EMMM-13-e13249-s001.pdf
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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."