Associated Papers
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
29309402 (PubMed )
Supplement: gim2017155x6.pdf
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 794.308
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