Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: PAH: 824C>T; rs62508715
Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability.
American Journal Of Human Genetics
Gersting, Søren W SW; Kemter, Kristina F KF; Staudigl, Michael M; Messing, Dunja D DD; Danecka, Marta K MK; Lagler, Florian B FB; Sommerhoff, Christian P CP; Roscher, Adelbert A AA; Muntau, Ania C AC