PMID: 23721890

Masson E, Hammel P, Garceau C, Benech C, Quemener-Redon S, Chen JM, Ferec C
Characterization of two deletions of the CTRC locus.
Mol Genet Metab. 2013 Jul;109(3):296-300. doi: 10.1016/j.ymgme.2013.04.022. Epub 2013 May 10., [PubMed]
Sentences
No. Mutations Sentence Comment
48 ABCC7 p.Leu997Phe
X
ABCC7 p.Leu997Phe 23721890:48:142
status: NEW
view ABCC7 p.Leu997Phe details
 In addition, the proband was found to carry a heterozygous variant in the SPINK1 gene, p.N34S, and a heterozygous variant in the CFTR gene, p.L997F (Fig. 1E). Login to comment 49 ABCC7 p.Leu997Phe
X
ABCC7 p.Leu997Phe 23721890:49:19
status: NEW
view ABCC7 p.Leu997Phe details
 Whereas the CFTR p.L997F variant was inherited from the healthy father, the SPINK1 p.N34S variant was most probably inherited from the deceased mother by virtue of its being a common polymorphism in normal populations [4,17]. Login to comment 72 ABCC7 p.Leu997Phe
X
ABCC7 p.Leu997Phe 23721890:72:11
status: NEW
view ABCC7 p.Leu997Phe details
 The CFTR p.L997F variant may largely act as a disease modifier in II1 since it has been previously reported in a variety of cystic fibrosis-related diseases including idiopathic chronic pancreatitis (see reference [22] and references therein). Login to comment