Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q996_L997Splc
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CFTR

NM_000492.4:p.Q996_L997Splc

Associated Papers

CFTR mutations and phenotypic correlations in people with cystic fibrosis: a retrospective study from a single centre in south India.

Varkki SD et al.

The Lancet Regional Health. Southeast Asia, 2024

The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.

Farkas DH et al.

The Journal of Molecular Diagnostics : Jmd, 2010

Standard mutation nomenclature in molecular diagnostics: practical and educational challenges.

Ogino S et al.

The Journal of Molecular Diagnostics : Jmd, 2007

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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."