Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.T1057R
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CFTR

NM_000492.4:p.T1057R

Associated Papers

Evaluation of Cystic Fibrosis Newborn Screening and Follow-Up Process in Georgia (2022-2023).

Vardosanidze N et al.

International Journal of Neonatal Screening, 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

Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Bozdogan ST et al.

Genes, 2021

Two years of newborn screening for cystic fibrosis in Turkey: Çukurova experience.

Şaşihüseyinoğlu AŞ et al.

The Turkish Journal of Pediatrics, 2019

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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."