De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects. Submitted by jdopazo on Tue, 09/07/2021 - 09:50 Martinez-Delgado B, Lopez-Martin E, Lara-Herguedas J, et al. De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects. Am J Med Genet A. 2021;185(3):877-883. doi:10.1002/ajmg.a.62017.
Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing. Submitted by iguillen on Tue, 06/18/2019 - 11:25 del Pozo MGonzález-, Borrego S, Barragán I, et al. Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing. PLoS One. 2011;6(12):e27894. doi:10.1371/journal.pone.0027894.
