Publications:

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

Human Mutation

Skopkova, Martina M; Hennig, Friederike F; Shin, Byung-Sik BS; Turner, Clesson E CE; Stanikova, Daniela D; Brennerova, Katarina K; Stanik, Juraj J; Fischer, Ute U; Henden, Lyndal L; Müller, Ulrich U; Steinberger, Daniela D; Leshinsky-Silver, Esther E; Bottani, Armand A; Kurdiova, Timea T; Ukropec, Jozef J; Nyitrayova, Olga O; Kolnikova, Miriam M; Klimes, Iwar I; Borck, Guntram G; Bahlo, Melanie M; Haas, Stefan A SA; Kim, Joo-Ran JR; Lotspeich-Cole, Leda E LE; Gasperikova, Daniela D; Dever, Thomas E TE; Kalscheuer, Vera M VM

Publication Date: 2017-04

Variant appearance in text: F2: 451G>C

PubMed Link: 28055140

Variant Present in the following documents:

• Main text

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