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PMID: 24569122
Guillot L, Beucher J, Tabary O, Le Rouzic P, Clement A, Corvol H
Lung disease modifier genes in cystic fibrosis.
Int J Biochem Cell Biol. 2014 Jul;52:83-93. doi: 10.1016/j.biocel.2014.02.011. Epub 2014 Feb 22.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
2274
ABCC7 p.Thr164Ile
X
ABCC7 p.Thr164Ile 24569122:2274:129
status:
NEW
view ABCC7 p.Thr164Ile details
Several of these SNPs alter the protein structure by causing a change in amino acid: Arg16Gly, Arg19Cys, Glu27Gln, Val34Met, and
Thr164Ile
(Hall, 2006).
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