Publications:

Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Shepard, Peter J PJ; Barshop, Bruce A BA; Baumgartner, Matthias R MR; Hansen, John-Bjarne JB; Jepsen, Kristen K; Smith, Erin N EN; Frazer, Kelly A KA

Publication Date: 2015-08

Variant appearance in text: CFTR: Val397Glyfs

PubMed Link: 25356967

Variant Present in the following documents:

• Main text

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