Associated Papers
A newborn with a pathogenic variant in ASXL2 expanding the phenotype of SHAPNS: a case report and literature review.
Yuan M et al.
Translational Pediatrics, 2023
36798937 (PubMed )
Supplement: tp-12-01-86-supplementary.pdf
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
Eisenberger T et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.
Baker K et al.
The Journal of Clinical Investigation, 2015
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