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Paper Details

Genotype-phenotype correlation at codon 1740 of SETD2.
Am J Med Genet A
11
2020
-tubulin, 5218C>T p., 5219G>A p., Arg1740Gln, Arg1740Trp, H3K36me3, LLS, Luscan-Lumish syndrome, SET domain containing 2, SETD2, c, c.5218C, c.5218C>T, c.5219G>A, codon 1740, congenital anomalies, histone H3, histone lysine methyltransferase, histones, intellectual disability, lysine, microcephaly, microtubules, neurodevelopmental features, overgrowth
Author NameAffiliation
William B DobynsCenter for Integrative Brain Research, Seattle Children's Research Institute
William B DobynsUniversity of Washington
William B DobynsUniversity of Washington
John A BernatUniversity of Iowa Hospitals
John A BernatUniversity of Iowa Hospitals
Jane A HurstGreat Ormond Street Hospital
Kelly Radtke
Schahram AkbarianFriedman Brain Institute and Department of Psychiatry, Icahn School of Medicine at Mount Sinai
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