Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.N703S
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CFTR

NM_000492.4:p.N703S

Associated Papers

One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study.

Nunziato M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders.

Castaldo A et al.

Diagnostics (basel, Switzerland), 2020

32784480 (PubMed )
Supplement: diagnostics-10-00570-s001.zip › supple › Supplemental_Table_2.pdf

PGD for cystic fibrosis patients and couples at risk of an additional genetic disorder combined with 24-chromosome aneuploidy testing.

Rechitsky S et al.

Reproductive Biomedicine Online, 2013

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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."