Associated Papers
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.
Zeevi DA et al.
Molecular Genetics & Genomic Medicine, 2021
A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family.
Binaafar S et al.
European Journal of Medical Genetics, 2020
GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.
Ouyang Q et al.
Human Genetics, 2019
GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia.
Hengel H et al.
Clinical Genetics, 2018
Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.
Kaymakcalan H et al.
American Journal of Medical Genetics. Part A, 2018
A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica.
Lobo-Prada T et al.
Jimd Reports, 2017
Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy.
Celis K et al.
Journal of Inherited Metabolic Disease, 2015
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