Publications:

Functional and structural characterization of a novel malignant hyperthermia-susceptible variant of DHPR-β1a subunit (CACNB1).

American Journal Of Physiology. Cell Physiology

Perez, Claudio F CF; Eltit, Jose M JM; Lopez, Jose R JR; Bodnár, Dóra D; Dulhunty, Angela F AF; Aditya, Shouvik S; Casarotto, Marco G MG

Publication Date: 2018-03-01

Variant appearance in text: CCD: 467T>C

PubMed Link: 29212769

Variant Present in the following documents:

• Main text

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PharmGKB summary: succinylcholine pathway, pharmacokinetics/pharmacodynamics.

Pharmacogenetics And Genomics

Alvarellos, Maria L ML; McDonagh, Ellen M EM; Patel, Sephalie S; McLeod, Howard L HL; Altman, Russ B RB; Klein, Teri E TE

Publication Date: 2015-12

Variant appearance in text: CCD: 467T>C

PubMed Link: 26398623

Variant Present in the following documents:

• Main text

View BVdb publication page