Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.
Tan M et al.
Frontiers in Genetics, 2022
35910219 (PubMed )
Supplement: DataSheet1.xlsx › Table_S7
Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene.
Essawi ML et al.
Journal, Genetic Engineering & Biotechnology, 2021
A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).
Low JL et al.
Ebiomedicine, 2021
33529999 (PubMed )
Supplement: mmc2.xlsx › Table_S2
[Clinical and genetic analysis of mucolipidosis in 3 pedigrees and literature review].
Liu N et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
Velho RV et al.
Human Mutation, 2019
A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease).
Wang P et al.
Bmc Veterinary Research, 2018
Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site.
Velho RV et al.
Human Molecular Genetics, 2015
Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene.
Cury GK et al.
Gene, 2013
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
Cathey SS et al.
Journal of Medical Genetics, 2010
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