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BRENDA support

Literature summary for 3.4.24.59 extracted from

  • Eldomery, MK; Akdemir, ZC; V๖gtle, FN; Charng, WL; Mulica, P; Rosenfeld, JA; Gambin, T; Gu, S; Burrage, LC; Al Shamsi, A; Penney, S; Jhangiani, SN; Zimmerman, HH; Muzny, DM; Wang, X; Tang, J; Medikonda, R; Ramachandran, PV; Wong, LJ; Boerwinkle, E; Gibbs, RA; Eng, CM; Lalani, SR; Hertecant, J; Rodenburg, RJ; Abdul-Rahman, OA; Yang, Y; Xia, F; Wang, MC; Lupski, JR; Meisinger, C; Sutton, VR
    MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. (2016), Genome Med, 8, 106.
    View publication on PubMedView publication on EuropePMC

Organism

Organism UniProt Comment Textmining