Varaico: Literature-Extracted Genetic Variants

Gene:CTH
Variant:p.K165N
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CTH

NM_001902.6:p.K165N

Associated Papers

ABCA6 Regulates Chondrogenesis and Inhibits Joint Degeneration via Orchestrated Cholesterol Efflux and Cellular Senescence.

Wang Y et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

39823538 (PubMed )
Supplement: ADVS-12-2410414-s003.xlsx › Sheet1

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_2

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › S13T2
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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."