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Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Hum Mutat. 2019 Sep;40(9):1530-1545. doi: 10.1002/humu.23868. Epub 2019 Sep 3.
Hum Mutat. 2019.
PMID: 31301157
Free PMC article.
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
Kasak L, Hunter JM, Udani R, Bakolitsa C, Hu Z, Adhikari AN, Babbi G, Casadio R, Gough J, Guerrero RF, Jiang Y, Joseph T, Katsonis P, Kotte S, Kundu K, Lichtarge O, Martelli PL, Mooney SD, Moult J, Pal LR, Poitras J, Radivojac P, Rao A, Sivadasan N, Sunderam U, Saipradeep VG, Yin Y, Zaucha J, Brenner SE, Meyn MS.
Kasak L, et al.
Hum Mutat. 2019 Sep;40(9):1373-1391. doi: 10.1002/humu.23874. Epub 2019 Sep 3.
Hum Mutat. 2019.
PMID: 31322791
Free PMC article.
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