Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.D984N
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CFTR

NM_000492.4:p.D984N

Associated Papers

Non-truncating BMPR1A variants associated with familial colorectal cancer and adenomatous polyps.

Nieminen TT et al.

Bmc Cancer, 2025

41023686 (PubMed )
Supplement: 12885_2025_14865_MOESM2_ESM.xlsx › CRC_II.4_FCCX-W

Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.

Lu Y et al.

Asian Journal of Andrology, 2025

[Clinical and gene mutation features of cystic fibrosis: an analysis of 8 cases].

Zhang N et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2022

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

Analysis of Clinical Manifestations, Imaging Features, and Gene Mutation Characteristics of 6 Children with Cystic Fibrosis in China.

Chu Y et al.

Evidence-based Complementary and Alternative Medicine : Ecam, 2021

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.

Pol A et al.

Nature Genetics, 2018

29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › EXAC_CFTR
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