TY  - GEN
AU  - Milev,Miroslav P
AU  - Stanga,Daniela
AU  - Schänzer,Anne
AU  - Nascimento,Andrés
AU  - Saint-Dic,Djenann
AU  - Ortez,Carlos
AU  - Natera-de Benito,Daniel
AU  - Barrios,Desiré González
AU  - Colomer,Jaume
AU  - Badosa,Carmen
AU  - Jou,Cristina
AU  - Gallano,Pia
AU  - Gonzalez-Quereda,Lidia
AU  - Töpf,Ana
AU  - Johnson,Katherine
AU  - Straub,Volker
AU  - Hahn,Andreas
AU  - Sacher,Michael
AU  - Jimenez-Mallebrera,Cecilia
TI  - Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein
SN  - 2045-2322
PY  - 2020///1027
KW  - Brain
KW  - diagnostic imaging
KW  - Child, Preschool
KW  - Female
KW  - Gene Frequency
KW  - Genetic Diseases, Inborn
KW  - genetics
KW  - Genetic Variation
KW  - Humans
KW  - Infant
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Muscle Hypotonia
KW  - Muscle, Skeletal
KW  - pathology
KW  - Vesicular Transport Proteins
KW  - chemistry
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/s41598-019-50415-6
ER  -