Found 4 results
Filters: Keyword is Amino Acid Substitution  [Clear All Filters]
2018
Knauf JA, Luckett KA, Chen K-Y, Voza F, Socci ND, Ghossein R, Fagin JA.  2018.  Hgf/Met activation mediates resistance to BRAF inhibition in murine anaplastic thyroid cancers.. J Clin Invest. 128(9):4086-4097.
2017
Lipstein N, Verhoeven-Duif NM, Michelassi FE, Calloway N, van Hasselt PM, Pienkowska K, van Haaften G, van Haelst MM, van Empelen R, Cuppen I et al..  2017.  Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.. J Clin Invest. 127(3):1005-1018.
2013
Wang H-Y, Ma CA, Zhao Y, Fan X, Zhou Q, Edmonds P, Uzel G, Oliveira JBosco, Orange J, Jain A.  2013.  Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK.. Proc Natl Acad Sci U S A. 110(13):5127-32.
2012
Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan W-M, Andrews C, Chew S, Jamieson RV et al..  2012.  An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.. Hum Mol Genet. 21(26):5484-99.