Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.I991M
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CFTR

NM_000492.4:p.I991M

Associated Papers

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Yu M et al.

Cell Genomics, 2025

41330381 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Yu M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39677473 (PubMed )
Supplement: media-1.xlsx › ST3

Next-Generation Sequencing Infertility Panel in Turkey: First Results.

Ikbal Atli E et al.

Balkan Journal of Medical Genetics : Bjmg, 2024

CFTR function is impaired in a subset of patients with pancreatitis carrying rare CFTR variants.

Angyal D et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2024

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."