Publications:

Identification of ER/SR resident proteins as biomarkers for ER/SR calcium depletion in skeletal muscle cells.

Orphanet Journal Of Rare Diseases

Greer, Lacey K LK; Meilleur, Katherine G KG; Harvey, Brandon K BK; Wires, Emily S ES

Publication Date: 2022-06-13

Variant appearance in text: RYR1: Ile2182Phe

PubMed Link: 35698232

Variant Present in the following documents:

• 13023_2022_Article_2368.pdf

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Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.

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

Johnston, Jennifer J JJ; Dirksen, Robert T RT; Girard, Thierry T; Gonsalves, Stephen G SG; Hopkins, Philip M PM; Riazi, Sheila S; Saddic, Louis A LA; Sambuughin, Nyamkhishig N; Saxena, Richa R; Stowell, Kathryn K; Weber, James J; Rosenberg, Henry H; Biesecker, Leslie G LG

Publication Date: 2021-07

Variant appearance in text: RYR1: Ile2182Phe

PubMed Link: 33767344

Variant Present in the following documents:

• NIHMS1689967-supplement-Large_Excel_File.xls, sheet 7

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Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia.

British Journal Of Anaesthesia

Schiemann, A H AH; Stowell, K M KM

Publication Date: 2016-07

Variant appearance in text: RYR1: 6544A>T; I2182F

PubMed Link: 27147545

Variant Present in the following documents:

• Main text

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Malignant hyperthermia.

Orphanet Journal Of Rare Diseases

Rosenberg, Henry H; Davis, Mark M; James, Danielle D; Pollock, Neil N; Stowell, Kathryn K

Publication Date: 2007-04-24

Variant appearance in text: RYR1: Ile2182Phe

PubMed Link: 17456235

Variant Present in the following documents:

• 1750-1172-2-21.pdf

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