Peters HL (November 2012). "Treatment of a methylmalonyl-CoA mutase stopcodon mutation". Biochemical and Biophysical Research Communications. 427 (4):...
25 KB (2,921 words) - 14:57, 26 August 2023
(K62X) and a frameshift mutation at position 258 (2T→C) resulting in a stopcodon (C84fsX3). GRCh38: Ensembl release 89: ENSG00000126524 – Ensembl, May...
14 KB (1,580 words) - 02:04, 15 March 2024