Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.D1154N
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CFTR

NM_000492.4:p.D1154N

Associated Papers

Newborn Screening Program for Cystic Fibrosis in Türkiye: Experiences from False-Negative Tests and Requirement for Optimization

Çoksüer F et al.

Balkan Medical Journal, 2025

Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.

McDonald EF et al.

Biorxiv : the Preprint Server for Biology, 2024

37873426 (PubMed )
Supplement: media-4.xlsx › Sheet1

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.

McDonald EF et al.

Plos One, 2024

38271453 (PubMed )
Supplement: pone.0297560.s010.xlsx › Supp_Table_3

Detection of mitochondrial DNA mutations using temporal temperature gradient gel electrophoresis.

Wong LJ et al.

Electrophoresis, 2004

Direct detection of multiple point mutations in mitochondrial DNA.

Wong LJ et al.

Clinical Chemistry, 1997

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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."