Associated Papers
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.
Werren E et al.
Research Square, 2023
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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