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Human Mutation|December 31, 2013
Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)Raffaella De Pace, Maria Francisca Coutinho, Friedrich Koch-Nolte, et al.
Human Mutation|August 21, 2015
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal DysplasiaGinevra Zanni, Vera M Kalscheuer, Andreas Friedrich, et al.
Human Mutation|July 30, 2015
Data sharing in the undiagnosed diseases networkCatherine A Brownstein, Ingrid A Holm, Rachel Ramoni, et al.
Human Mutation|September 3, 2015
Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2Abhishek Niroula, Mauno Vihinen
Human Mutation|December 30, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutationsAnna Caciotti, Rodolfo Tonin, Miriam Rigoldi, et al.
Human Mutation|April 3, 2016
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate FamiliesAideen M McInerney-Leo, Jessica E Harris, Michael Gattas, et al.
Human Mutation|July 21, 2017
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)Jennifer A Wambach, Georg M Stettner, Tobias B Haack, et al.
Human Mutation|July 22, 2017
FGF9 mutation causes craniosynostosis along with multiple synostosesMaria Rodriguez-Zabala, Miriam Aza-Carmona, Carlos I Rivera-Pedroza, et al.
Human Mutation|July 26, 2017
Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disordersElliot Sollis, Pelagia Deriziotis, Hirotomo Saitsu, et al.
Human Mutation|August 18, 2017
Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnosticsLaurens Wiel, Hanka Venselaar, Joris A Veltman, et al.
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