Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q493fs
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CFTR

NM_000492.4:p.Q493fs

Associated Papers

Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.

Sicko RJ et al.

International Journal of Neonatal Screening, 2021

34842611 (PubMed )
Supplement: IJNS-07-00073-s001.zip › Sicko_et_al__NYS_CF_NGS_Panel_Supplemental_Table_S2.pdf

Sequencing as a first-line methodology for cystic fibrosis carrier screening.

Beauchamp KA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31036917 (PubMed )
Supplement: 41436_2019_525_MOESM3_ESM.xlsx › Sheet1
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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."