Associated Papers
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.
Chan AJS et al.
Nature Communications, 2022
36309498 (PubMed )
Supplement: 41467_2022_34112_MOESM4_ESM.xlsx › SupData_17
Molecular Diagnosis of Neurofibromatosis by Multigene Panel Testing.
Zhang ZY et al.
Frontiers in Genetics, 2021
Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients.
Zhu G et al.
Orphanet Journal of Rare Diseases, 2019
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