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
Tryptophan to Glycine mutation in the position 116 leads to protein aggregation and decreases the stability of the LITAF protein.
Kumar CV et al.
Journal of Biomolecular Structure & Dynamics, 2015
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