Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.V317_P324del8
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CFTR

NM_000492.4:p.V317_P324del8

Associated Papers

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

Ni Q et al.

Orphanet Journal of Rare Diseases, 2022

35313924 (PubMed )
Supplement: 13023_2022_2279_MOESM1_ESM.xls › TableS1_CFTR_sites

[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis].

Wang MJ et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2021

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