11 Matching Annotations
  1. Jan 2025
  2. Dec 2021
  3. May 2021
  4. Mar 2021
    1. Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).

      AssayResult: 7.7

      AssayResultAssertion: Normal

      StandardErrorMean: 0.15

    1. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 43.3

      AssayResultAssertion: Abnormal

      ReplicateCount: 14

      StandardErrorMean: 12.2

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

  5. Sep 2018
    1. Quienes hayan obtenido la posesión de manera viciada, clandestina o violenta, sea de manera directa o indirecta o a través de la comisión de cualquier delito.b)Quienes hayan obtenido la explotación de bienes baldíos, o bienes provenientes del Fondo Nacional Agrario, en los mismos términos del literal anterior.

      Aquí hay un segundo ataque a las parcelaciones INCORADAS. ESconde una criminalización que es la segunda justificación de la violencia paramilitar contra esas poblaciones.