Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.V1147V
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CFTR

NM_000492.4:p.V1147V

Associated Papers

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Reijnders MRF et al.

Nature Communications, 2017

29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations

Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator.

Bartoszewski R et al.

Cellular & Molecular Biology Letters, 2016

28536625 (PubMed )
Supplement: 11658_2016_25_MOESM2_ESM.xlsx › Sheet2
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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."