PMC Links for Nucleotide (Select 237874180) - PMC

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Items: 2

Select item 64988301.

A novel mutation in VPS33B gene causing a milder ARC syndrome phenotype with prolonged survival

Rodrigo del Brío Castillo, James E. Squires, Patrick J. McKiernan

JIMD Rep. 2019 May; 47(1): 4–8. Published online 2019 Mar 22. doi: 10.1002/jmd2.12027

PMCID:: PMC6498830

Abstract Article PDF–564K

Select item 37461102.

Associations Among Genotype, Clinical Phenotype, and Intracellular Localization of Trafficking Proteins in ARC Syndrome

Holly Smith, Romain Galmes, Ekaterina Gogolina, Anna Straatman-Iwanowska, Kim Reay, Blerida Banushi, Christopher K Bruce, Andrew R Cullinane, Rene Romero, Richard Chang, Oanez Ackermann, Clarisse Baumann, Hakan Cangul, Fatma Cakmak Celik, Canan Aygun, Richard Coward, Carlo Dionisi-Vici, Barbara Sibbles, Carol Inward, Chong Ae Kim, Judith Klumperman, A S Knisely, Steven P Watson, Paul Gissen

Hum Mutat. 2012 Dec; 33(12): 1656–1664. Published online 2012 Jul 2. doi: 10.1002/humu.22155