Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.T1076P
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CFTR

NM_000492.4:p.T1076P

Associated Papers

Genomic sequencing in cystic fibrosis newborn screening: what works best, two-tier predefined CFTR mutation panels or second-tier CFTR panel followed by third-tier sequencing?

Currier RJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.

Salinas DB et al.

Plos One, 2016

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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."