COLLEEN MACMURDO to Mutation
This is a "connection" page, showing publications COLLEEN MACMURDO has written about Mutation.
Connection Strength
0.128
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Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 07 01; 73(7):836-845.
Score: 0.051
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RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome. Am J Med Genet A. 2016 06; 170(6):1450-4.
Score: 0.049
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Expanding the clinical and genetic spectrum of PCYT2-related disorders. Brain. 2020 09 01; 143(9):e76.
Score: 0.017
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De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. Am J Hum Genet. 2015 Mar 05; 96(3):498-506.
Score: 0.012