Associated Papers
Insufficient gene expression and lost gene regulatory network may underlie the mechanism of Hirschsprung Disease in 5p-syndrome.
Luan Y et al.
Heliyon, 2025
39959475 (PubMed )
Supplement: mmc1.xlsx › Patient1-snvs
Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients.
Tang J et al.
Genes, 2022
36553485 (PubMed )
Supplement: genes-13-02218-s001.zip › Supplemental_tables.xlsx › S2
Identification of a homozygous JAK3 V674A mutation caused by acquired uniparental disomy in a relapsed early T-cell precursor ALL patient.
Kawashima-Goto S et al.
International Journal of Hematology, 2015
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