Publications:

Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.

Genes

Cotta, Ana A; Souza, Lucas Santos LS; Carvalho, Elmano E; Feitosa, Leticia Nogueira LN; Cunha, Antonio A; Navarro, Monica Machado MM; Valicek, Jaquelin J; Menezes, Miriam Melo MM; Neves, Simone Vilela Nunes SVN; Xavier-Neto, Rafael R; Vargas, Antonio Pedro AP; Takata, Reinaldo Issao RI; Paim, Julia Filardi JF; Vainzof, Mariz M

Publication Date: 2022-04-26

Variant appearance in text: RYR1: Ala3431Val

PubMed Link: 35627144

Variant Present in the following documents:

• Main text
• genes-13-00760.pdf

View BVdb publication page

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine

Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C

Publication Date: 2022-02-18

Variant appearance in text: RYR1: 10292C>T; Ala3431Val; rs561605726

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.

European Journal Of Human Genetics : Ejhg

Fridriksdottir, Run R; Jonsson, Arnar J AJ; Jensson, Brynjar O BO; Sverrisson, Kristinn O KO; Arnadottir, Gudny A GA; Skarphedinsdottir, Sigurbjorg J SJ; Katrinardottir, Hildigunnur H; Snaebjornsdottir, Steinunn S; Jonsson, Hakon H; Eiriksson, Ogmundur O; Oskarsson, Gudjon R GR; Oddsson, Asmundur A; Jonasdottir, Adalbjorg A; Jonasdottir, Aslaug A; Sigurdsson, Gisli H GH; Indridason, Einar P EP; Sigurdsson, Stefan B SB; Bjornsdottir, Gyda G; Saemundsdottir, Jona J; Magnusson, Olafur T OT; Bjornsson, Hans T HT; Thorsteinsdottir, Unnur U; Sigurdsson, Theodor S TS; Sulem, Patrick P; Sigurdsson, Martin I MI; Stefansson, Kari K

Publication Date: 2021-12

Variant appearance in text: RYR1: 10292C>T; Ala3431Val

PubMed Link: 34462577

Variant Present in the following documents:

• 41431_2021_954_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.

European Journal Of Human Genetics : Ejhg

Fridriksdottir, Run R; Jonsson, Arnar J AJ; Jensson, Brynjar O BO; Sverrisson, Kristinn O KO; Arnadottir, Gudny A GA; Skarphedinsdottir, Sigurbjorg J SJ; Katrinardottir, Hildigunnur H; Snaebjornsdottir, Steinunn S; Jonsson, Hakon H; Eiriksson, Ogmundur O; Oskarsson, Gudjon R GR; Oddsson, Asmundur A; Jonasdottir, Adalbjorg A; Jonasdottir, Aslaug A; Sigurdsson, Gisli H GH; Indridason, Einar P EP; Sigurdsson, Stefan B SB; Bjornsdottir, Gyda G; Saemundsdottir, Jona J; Magnusson, Olafur T OT; Bjornsson, Hans T HT; Thorsteinsdottir, Unnur U; Sigurdsson, Theodor S TS; Sulem, Patrick P; Sigurdsson, Martin I MI; Stefansson, Kari K

Publication Date: 2021-12

Variant appearance in text: RYR1: 10292C>T; Ala3431Val

PubMed Link: 34462577

Variant Present in the following documents:

• 41431_2021_954_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

Immunogenomic Landscape Contributes to Hyperprogressive Disease after Anti-PD-1 Immunotherapy for Cancer.

Iscience

Xiong, Donghai D; Wang, Yian Y; Singavi, Arun K AK; Mackinnon, Alexander C AC; George, Ben B; You, Ming M

Publication Date: 2018-11-30

Variant appearance in text: RYR1: A3431V

PubMed Link: 30439581

Variant Present in the following documents:

• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 3

View BVdb publication page