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RYR1 c.14483T>G ;(p.L4828R)
Variant ID: 19-39070740-T-G
NM_000540.2(
RYR1
):c.14483T>G;(p.L4828R)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
In vivo RyR1 reduction in muscle triggers a core-like myopathy.
Acta Neuropathologica Communications
Pelletier, Laurent L; Petiot, Anne A; Brocard, Julie J; Giannesini, Benoit B; Giovannini, Diane D; Sanchez, Colline C; Travard, Lauriane L; Chivet, Mathilde M; Beaufils, Mathilde M; Kutchukian, Candice C; Bendahan, David D; Metzger, Daniel D; Franzini Armstrong, Clara C; Romero, Norma B NB; Rendu, John J; Jacquemond, Vincent V; Fauré, Julien J; Marty, Isabelle I
Publication Date: 2020-11-11
Variant appearance in text: RYR1: L4828R
PubMed Link:
33176865
Variant Present in the following documents:
Main text
40478_2020_Article_1068.pdf
View BVdb publication page
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Acta Neuropathologica Communications
Garibaldi, Matteo M; Rendu, John J; Brocard, Julie J; Lacene, Emmanuelle E; Fauré, Julien J; Brochier, Guy G; Beuvin, Maud M; Labasse, Clemence C; Madelaine, Angeline A; Malfatti, Edoardo E; Bevilacqua, Jorge Alfredo JA; Lubieniecki, Fabiana F; Monges, Soledad S; Taratuto, Ana Lia AL; Laporte, Jocelyn J; Marty, Isabelle I; Antonini, Giovanni G; Romero, Norma Beatriz NB
Publication Date: 2019-01-05
Variant appearance in text: RYR1: 14483T>G; Leu4828Arg
PubMed Link:
30611313
Variant Present in the following documents:
Main text
40478_2018_655_MOESM1_ESM.xlsx, sheet 2
40478_2018_655_MOESM1_ESM.xlsx, sheet 3
40478_2018_655_MOESM1_ESM.xlsx, sheet 6
40478_2018_655_MOESM1_ESM.xlsx, sheet 7
40478_2018_Article_655.pdf
40478_2018_655_MOESM1_ESM.xlsx, sheet 8
View BVdb publication page