9 Matching Annotations
  1. Last 7 days
  2. Oct 2021
    1. Dowdy, D. (2021, September 21). On the J&J booster news, keep in mind: 1. Median follow-up since 2nd dose was just 36 days, 2. Efficacy vs moderate COVID was 75% globally, and 3. Total number of cases in the US was 15. Please don’t take this to mean that a 2nd dose provides long-term increase in protection. Https://t.co/RnqDNBmwuD [Tweet]. @davidwdowdy. https://twitter.com/davidwdowdy/status/1440323242942554122

  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: 4.9

      AssayResultAssertion: Normal

      StandardErrorMean: 0.93

    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.3494C>T p.(Ser1165Leu)

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

      AssayResult: 51.9

      AssayResultAssertion: Indeterminate

      ReplicateCount: 12

      StandardErrorMean: 18.8

      Comment: This variant had a mild loss of function in peak current (50-75% of wildtype). It had unmeasured late current, but has been previously reported to have high late current (GOF feature). Therefore it was considered to meet neither the abnormal or normal functional parameter. (Personal communication: A. Glazer)

    2. we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.5350G>A p.(Glu1784Lys)

  4. May 2015
    1. SCENE I. A desert place.

      SCENE I. A desert place. at 75..99

    2. SCENE I. A desert place.

      SCENE I. A desert place. at 75..99

    3. SCENE I. A desert place.

      SCENE I. A desert place. at 75..99