Skip to Main Content

Paper Details

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.
Hum Mol Genet
75
2011
Mendelian disease, Mendelian disease genes, NSMR, TECR, TECR gene, amino acid, autosomal recessive non-syndromic mental retardation, chromosome 19p13, leucine, nonsyndromic mental retardation, novel disease genes, novel locus, proline, single variant site, synaptic glycoprotein, trans-2,3-enoyl-CoA, trans-2,3-enoyl-CoA reductase

Datasets

Release 1.2