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1.
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
Am J Hum Genet
; 102(4): 696-705, 2018 04 05.
Article
in English
| MEDLINE | ID: mdl-29606302
2.
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.
BMC Med Genet
; 17(1): 93, 2016 Dec 05.
Article
in English
| MEDLINE | ID: mdl-27919237
3.
Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity.
J Clin Endocrinol Metab
; 105(1)2020 01 01.
Article
in English
| MEDLINE | ID: mdl-31872862
4.
Crystal structure of a human Mob1 protein: toward understanding Mob-regulated cell cycle pathways.
Structure
; 11(9): 1163-70, 2003 Sep.
Article
in English
| MEDLINE | ID: mdl-12962634
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