Prevalence (%) of clinical parameters based on data from 1 references describing 6 individuals
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List of references:
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
John F Staropoli, Amel Karaa, Elaine T Lim, Andrew Kirby, Naser Elbalalesy, Stephen G Romansky, Karen B Leydiker, Scott H Coppel, Rosemary Barone, Winnie Xin, Marcy E MacDonald, Jose E Abdenur, Mark J Daly, Katherine B Sims, Susan L Cotman,
American journal of human genetics - Jul 2012