RYR1 c.1993del ;(p.V665*)

Variant ID: 19-38948756-AG-A

NM_000540.2(RYR1):c.1993del;(p.V665*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.

Acta Neuropathologica
Kushnir, Alexander A; Todd, Joshua J JJ; Witherspoon, Jessica W JW; Yuan, Qi Q; Reiken, Steven S; Lin, Harvey H; Munce, Ross H RH; Wajsberg, Benjamin B; Melville, Zephan Z; Clarke, Oliver B OB; Wedderburn-Pugh, Kaylee K; Wronska, Anetta A; Razaqyar, Muslima S MS; Chrismer, Irene C IC; Shelton, Monique O MO; Mankodi, Ami A; Grunseich, Christopher C; Tarnopolsky, Mark A MA; Tanji, Kurenai K; Hirano, Michio M; Riazi, Sheila S; Kraeva, Natalia N; Voermans, Nicol C NC; Gruber, Angela A; Allen, Carolyn C; Meilleur, Katherine G KG; Marks, Andrew R AR
Publication Date: 2020-06

Variant appearance in text: RYR1: 1993del
PubMed Link: 32236737
Variant Present in the following documents:
  • Main text
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