Publications:

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Töpf, Ana A; Johnson, Katherine K; Bates, Adam A; Phillips, Lauren L; Chao, Katherine R KR; England, Eleina M EM; Laricchia, Kristen M KM; Mullen, Thomas T; Valkanas, Elise E; Xu, Liwen L; Bertoli, Marta M; Blain, Alison A; Casasús, Ana B AB; Duff, Jennifer J; Mroczek, Magdalena M; Specht, Sabine S; Lek, Monkol M; Ensini, Monica M; MacArthur, Daniel G DG; , ; Straub, Volker V

Publication Date: 2020-09

Variant appearance in text: RYR1: 12110del; G4037Afs*2

PubMed Link: 32528171

Variant Present in the following documents:

• 41436_2020_840_MOESM10_ESM.xlsx, sheet 1

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Evaluation of suspected malignant hyperthermia events during anesthesia.

Bmc Anesthesiology

Schuster, Frank F; Johannsen, Stephan S; Schneiderbanger, Daniel D; Roewer, Norbert N

Publication Date: 2013-09-23

Variant appearance in text: MHS: Gly4037Alafs

PubMed Link: 24053352

Variant Present in the following documents:

• Main text
• 1471-2253-13-24.pdf

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