Associated Papers
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.
Werren E et al.
Research Square, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
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
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