Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E1104Q
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CFTR

NM_000492.4:p.E1104Q

Associated Papers

Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.

Pranke I et al.

Erj Open Research, 2018

29497617 (PubMed )
Supplement: 00080-2017_supp.pdf
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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."