Standardizing variant naming in literature with VariantValidator to increase diagnostic rates

Author(s):: Freeman, P.J.; Wagstaff, J.F.; Fokkema, I.F.A.C. (0000-0002-1368-1939); Cutting, G.R.; Rehm, H.L.; Davies, A.C.; Dunnen, J.T. den (0000-0002-6304-1710); Gretton, L.J.; Dalgleish, R.

Published: 2024
Publication type: Article / Letter to editor

Date issued: 2024-11-30
Language: English
Is part of: Nature Genetics (2024), Vol. 56, no. 11, p. 2284-2286
hdl: 1887/4210470
doi: 10.1038/s41588-024-01938-w
URL: https://www.nature.com/articles/s41588-024-01938-w