Varaico: Literature-Extracted Genetic Variants

Gene:CHI3L1
Variant:p.C364C
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CHI3L1

NM_001276.4:p.C364C

Associated Papers

Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.

Zhao A et al.

Genes & Diseases, 2025

39386107 (PubMed )
Supplement: mmc2.xlsx › standard

The role of the Chitinase 3-Like 1 (CHI3L1) genes in the preeclampsia pathophysiology.

Mammadova N et al.

Revista Da Associacao Medica Brasileira (1992), 2024

Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Park H et al.

Acta Neuropathologica Communications, 2022

35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary
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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."