Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.

Unlu G, Qi X, Gamazon ER, Melville DB, Patel N, Rushing AR, Hashem M, Al-Faifi A, Chen R, Li B, Cox NJ, Alkuraya FS, Knapik EW
Nat Med. 2020 26 (1): 98-109

PMID: 31932796 · PMCID: PMC7147997 · DOI:10.1038/s41591-019-0705-y

MeSH Terms (21)

Abnormalities, Multiple Animals Behavior, Animal Biological Specimen Banks Chondrocytes Disease Models, Animal Extracellular Matrix Fibroblasts Guanine Nucleotide Exchange Factors Humans Models, Biological Musculoskeletal System Osteogenesis Phenomics Phenotype Procollagen Protein Transport Secretory Pathway Syndrome Zebrafish Zebrafish Proteins

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