A. Brooks

Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co‐segregates with tuberous sclerosis complex in mildly affected kindreds

M. Wentink, A. V. D. van den Ouweland, M. Nellist, 2012, Clinical genetics.

Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency

F. Endo, G. Andria, Y. Indo, 2001, Human mutation.

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

Colin A. Johnson, M. Hubank, E. Stupka, 2015, Journal of Medical Genetics.

Erratum: The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

Colin A. Johnson, M. Hubank, E. Stupka, 2016, Journal of Medical Genetics.