Detalhe da pesquisa
1.
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.
Am J Hum Genet
; 110(9): 1496-1508, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37633279
2.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Am J Hum Genet
; 104(6): 1210-1222, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079897
3.
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data.
medRxiv
; 2023 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36945502
4.
Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Genome Med
; 14(1): 73, 2022 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35850704