Associated Papers
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability.
Mattioli F et al.
Human Molecular Genetics, 2019
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
Amos JS et al.
Clinical Genetics, 2017
Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.
Triggs-Raine B et al.
Molecular Genetics & Genomic Medicine, 2016
Intellectual disability associated with a homozygous missense mutation in THOC6.
Beaulieu CL et al.
Orphanet Journal of Rare Diseases, 2013
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