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Article

Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.

Journal of applied genetics - 1 Dec 2022

Jankowski Maciej, Daca-Roszak Patrycja, Obracht-Prondzyński Cezary, Płoski Rafał, Lipska-Ziętkiewicz Beata S, Ziętkiewicz Ewa

Abstract excerpt

Differential distribution of genetic variants' frequency among human populations is caused by the genetic drift in isolated populations, historical migrations, and demography. Some of these variants are identical by descent and represent founder mutations, which - if pathogenic in nature - lead to the increased frequency of otherwise rare diseases. The detection of the increased regional prevalence of pathogenic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 35971028
DOI: 10.1007/s13353-022-00713-z
PMCID: PMC9637066

Genes

BRCA1
HADHA
LDLR
NPHS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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