A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2016_40
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1. Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability;European Journal of Medical Genetics;2022-09
2. Demyelinating motor neuropathy associated with a homozygous GPT2 pathogenic variant;Muscle & Nerve;2021-02-15
3. A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family;European Journal of Medical Genetics;2020-05
4. GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates;Human Genetics;2019-08-30
5. GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia;Clinical Genetics;2018-07-10
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