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A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
2012 - Forschungsinformationssystem des UKE
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.
2012 - Forschungsinformationssystem des UKE
An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.
2012 - Forschungsinformationssystem des UKE