Associated Papers
Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation.
Clausen L et al.
Plos Genetics, 2020
33137092 (PubMed )
Supplement: pgen.1009187.s014.xlsx › Fig2F_S10AB
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
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