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Article

KVarPredDB: a database for predicting pathogenicity of missense sequence variants of keratin genes associated with genodermatoses.

Human genomics - 7 Dec 2020

Ying Yuyi, Lu Lu, Banerjee Santasree, Xu Lizhen, Zhao Qiang, Wu Hao, Li Ruiqi, Xu Xiao, Yu Hua, Neculai Dante, Xi Yongmei, Yang Fan, Qin Jiale, Li Chen

Abstract excerpt

BACKGROUND: Germline variants of ten keratin genes (K1, K2, K5, K6A, K6B, K9, K10, K14, K16, and K17) have been reported for causing different types of genodermatoses with an autosomal dominant mode of inheritance. Among all the variants of these ten keratin genes, most of them are missense variants. Unlike pathogenic and likely pathogenic variants, understanding the clinical importance of novel missense variants...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

Share to Polymorphism, Single Nucleotide

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Share to Skin Diseases, Genetic

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Identifiers

PMID: 33287903
DOI: 10.1186/s40246-020-00295-z
PMCID: PMC7720490

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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