Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.A274V
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CFTR

NM_000492.4:p.A274V

Associated Papers

Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

Rodriguez-Flores JL et al.

Human Mutation, 2014

Spinal muscular atrophy: molecular genetics and diagnostics.

Ogino S et al.

Expert Review of Molecular Diagnostics, 2004

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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."