Additional file 1: Table S1. of Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?
Julia Ehret
Hartmut Engels
Kirsten Cremer
Jessica Becker
Johannes Zimmermann
Eva Wohlleber
Ute Grasshoff
Eva Rossier
Michael Bonin
Elisabeth Mangold
Andrea Bevot
Stefanie SchĂśn
Stefanie Heilmann-Heimbach
Nicola Dennert
Michèle Mathieu-Dramard
Elodie Lacaze
Ghislaine Plessis
Alain de Broca
Guillaume Jedraszak
Benno RĂśthlisberger
Peter Miny
Isabel Filges
Andreas Dufke
Joris Andrieux
Jennifer Lee
Alexander Zink
10.6084/m9.figshare.c.3622808_D1.v1
https://springernature.figshare.com/articles/journal_contribution/Additional_file_1_Table_S1_of_Microdeletions_in_9q33_3-q34_11_in_five_patients_with_intellectual_disability_microcephaly_and_seizures_of_incomplete_penetrance_is_STXBP1_not_the_only_causative_gene_/4399253
Sequencing results of GARNL3 in 192 patients with ID/DD.
2015-09-29 05:00:00
Microdeletion 9q33.3-q34.11
Intellectual disability
STXBP1
Contiguous gene syndrome
Haploinsufficiency