학술논문
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms
Document Type
Article
Author
Roberts, A.M.; Josephs, K.S.; Ware, J.S.; Hay, E.; DiStefano, M.T.; Whiffin, N.; Rehm, H.L.; Riggs, E.R.; Alkuraya, F.S.; Amberger, J.; Hamosh, A.; Amin, M.; Rath, A.; Berg, J.S.; Cunningham, F.; Foreman, J.; McDonagh, E.M.; Perrett, D.; Eilbeck, K.; Sant, D.W.; Firth, H.V.; Leigh, S.; Martin, C.L.; Ramos, E.M.; Robinson, P.N.; Stark, Z.
Source
In: Genetics in Medicine . (Genetics in Medicine, February 2024, 26(2))
Subject
Language
English
ISSN
15300366
10983600
10983600