Literature citations
Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.
Steinruecke S.; Lohmann K.; Domingo A.; Rolfs A.; Baeumer T.; Spiegler J.; Hartmann C.; Muenchau A.;
Neurol. Genet. 2:E106-E106(2016)
Cited for: VARIANT MRD42 GLY-118;
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
Lohmann K.; Masuho I.; Patil D.N.; Baumann H.; Hebert E.; Steinruecke S.; Trujillano D.; Skamangas N.K.; Dobricic V.; Huening I.; Gillessen-Kaesbach G.; Westenberger A.; Savic-Pavicevic D.; Muenchau A.; Oprea G.; Klein C.; Rolfs A.; Martemyanov K.A.;
Hum. Mol. Genet. 26:1078-1086(2017)
Cited for: VARIANTS MRD42 PHE-30; GLY-52; VAL-64; ARG-91; THR-92; SER-94; LEU-96; THR-106; GLY-118 AND GLN-337; CHARACTERIZATION OF VARIANTS MRD42 PHE-30; GLY-52; VAL-64; ARG-91; THR-92; SER-94; LEU-96; THR-106; GLY-118 AND GLN-337;
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