Publications:

CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.

Molecular Metabolism

Montagne, Louise L; Derhourhi, Mehdi M; Piton, Amélie A; Toussaint, Bénédicte B; Durand, Emmanuelle E; Vaillant, Emmanuel E; Thuillier, Dorothée D; Gaget, Stefan S; De Graeve, Franck F; Rabearivelo, Iandry I; Lansiaux, Amélie A; Lenne, Bruno B; Sukno, Sylvie S; Desailloud, Rachel R; Cnop, Miriam M; Nicolescu, Ramona R; Cohen, Lior L; Zagury, Jean-François JF; Amouyal, Mélanie M; Weill, Jacques J; Muller, Jean J; Sand, Olivier O; Delobel, Bruno B; Froguel, Philippe P; Bonnefond, Amélie A

Publication Date: 2018-07

Variant appearance in text: MTHFR: 1348G>T; Val450Leu

PubMed Link: 29784605

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page