6 Matching Annotations
  1. Mar 2025
    1. Sam Wooding and the Chocolate Kiddies Tour the USSR

      What an interesting name for a troupe... Tell us more. What did the performers think of their tour? Did they return to the USSR another time?

  2. Nov 2023
  3. 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: 0.8

      AssayResultAssertion: Abnormal

      StandardErrorMean: 0.13

    2. A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected

      HGVS: NM_024675.3:c.751C>T p.(Gln251Ter)