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PubMed (cited) for id: 615665
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A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).
Eur J Med Genet. 2019 Nov;62(11):103576. doi: 10.1016/j.ejmg.2018.11.010. Epub 2018 Nov 10.
Eur J Med Genet. 2019.
PMID: 30423442
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
Thomas S, Wright KJ, Le Corre S, Micalizzi A, Romani M, Abhyankar A, Saada J, Perrault I, Amiel J, Litzler J, Filhol E, Elkhartoufi N, Kwong M, Casanova JL, Boddaert N, Baehr W, Lyonnet S, Munnich A, Burglen L, Chassaing N, Encha-Ravazi F, Vekemans M, Gleeson JG, Valente EM, Jackson PK, Drummond IA, Saunier S, Attié-Bitach T.
Thomas S, et al.
Hum Mutat. 2014 Jan;35(1):137-46. doi: 10.1002/humu.22470.
Hum Mutat. 2014.
PMID: 24166846
Free PMC article.
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