Recommendations for a nomenclature system for human gene mutations

by Antonarakis, S.E., Ashburner, M., Auerbach, A.D., Beaudet, A.L., Beckmann, J.S., Beutler, E., Cooper, D.N., Cotton, R.G.H., Den Dunnen, J.T., Desnick, R.J., Eng, C., Fasman, K.H., Goldman, D., Hayashi, K., Hutchinson, F., Kazazian Jr., H.H., Keen, J., King, M.-C., Lehvaslaiho, H., McAlpine, P.J., McKusick, V., Motulski, A.G., Povey, S., Schorderet, D.F., Scriver, C.R., Shows Jr., T.B., Supertifurga, A., Tay, A.H.N., Tsui, L.-C., Valle, D., Vihinen, M.
Published 2014