• Mutation; HGNC; HGNC:583; APC; Simple; p.Gln1367Ter (c.4099C>T); ClinVar=VCV000376060; Zygosity=Homozygous (from parent cell line).
  
• Mutation; HGNC; HGNC:2514; CTNNB1; Simple; p.Gly245Ala (c.734G>C); Zygosity=Heterozygous (from parent cell line).
  
• Mutation; HGNC; HGNC:6770; SMAD4; Simple; p.Asp351His (c.1051G>C); ClinVar=VCV000375998; Zygosity=Homozygous (from parent cell line).
  
• Mutation; HGNC; HGNC:11998; TP53; Simple; p.Glu204Ter (c.610G>T); ClinVar=VCV000977783; Zygosity=Homozygous (from parent cell line).
  

PubMed=35575086; DOI=10.1172/JCI154997; PMCID=PMC9106349
Remi Duclaux-Loras, Corinne Lebreton, Jeremy Berthelet, Fabienne Charbit-Henrion, Ophelie Nicolle, Celine Revenu des Courtils, Stephanie Waich, Taras Valovka, Anis Khiat, Marion Rabant, Caroline Racine ...Show all 37 authors... , Ida Chiara Guerrera, Julia Baptista, Maxime M. Mahe, Michael W. Hess, Beatrice Durel, Nathalie Lefort, Celine Banal, Melanie Parisot, Cecile Talbotec, Florence Lacaille, Emmanuelle Ecochard-Dugelay, Arzu Meltem Demir, Georg F. Vogel, Laurence Faivre, Astor Rodrigues, Darren Fowler, Andreas R. Janecke, Thomas Muller, Lukas Alfons Huber, Fernando Rodrigues-Lima, Frank M. Ruemmele, Holm H. Uhlig, Filippo Del Bene, Gregoire Michaux, Nadine Cerf-Bensussan, Marianna Parlato; Show fewer authors
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
J. Clin. Invest. 132:e154997.1-e154997.12(2022)