Associated Papers
Predicting molecular mechanisms of hereditary diseases by using their tissue-selective manifestation.
Simonovsky E et al.
Molecular Systems Biology, 2023
37232043 (PubMed )
Supplement: MSB-19-e11407-s001.xls › EV3A.Detailed_associations
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.
Scala M et al.
Brain : a Journal of Neurology, 2020
RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3.
Perez Y et al.
Brain : a Journal of Neurology, 2018
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