Publications:

Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases

Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X

Publication Date: 2022-03-21

Variant appearance in text: CFTR: 367C>G; L123V

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM1_ESM.xls, sheet 1

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Most mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP.

The Journal Of Biological Chemistry

Kanack, Adam J AJ; Newsom, Oliver J OJ; Scaglione, Kenneth Matthew KM

Publication Date: 2018-02-23

Variant appearance in text: CFTR: L123V

PubMed Link: 29317501

Variant Present in the following documents:

• Main text

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