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Article

Pathogenic variation distribution of ACMG 3.2 list genes in 11 ethnic groups in southwest China.

BMC genomics - 13 Jun 2026

Luo Yunyan, Lei Changgui, Chi Anmin, Luo Fei, Wang Chanjuan, Zhang Ting, Xiao Yanxiang, Shan Keren, Qi Xiaolan, Jin Xin, Zeng Shuang, He Yan

Abstract excerpt

In recent years, human whole genome sequencing projects in China and abroad have made accidental discoveries in different populations. However, the genetic variants present in the multiethnic population of the southwest region of China remain unclear. The purpose of this study is to elucidate the frequency distribution of different types of genetic variations, particularly pathogenic variants, in ACMG v3.2 list...

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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: 42288740
DOI: 10.1186/s12864-026-12934-1
PMCID: PMC13488281

Genes

ATP7B
GAA
PALB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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