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Filters: Keyword is Mutation, Missense and Author is Amiel, Jeanne [Clear All Filters]
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 ;104(3):530-541.
. Mutations in KCTD1 cause scalp-ear-nipple syndrome. Am J Hum Genet. 2013 ;92(4):621-6.
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