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HR c.613G>A ;(p.G205S)
Variant ID: 8-21985342-C-T
NM_005144.4(
HR
):c.613G>A;(p.G205S)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).
Orphanet Journal Of Rare Diseases
Scalco, Renata S RS; Lucia, Alejandro A; Santalla, Alfredo A; Martinuzzi, Andrea A; Vavla, Marinela M; Reni, Gianluigi G; Toscano, Antonio A; Musumeci, Olimpia O; Voermans, Nicol C NC; Kouwenberg, Carlyn V CV; Laforêt, Pascal P; San-Millán, Beatriz B; Vieitez, Irene I; Siciliano, Gabriele G; Kühnle, Enrico E; Trost, Rebeca R; Sacconi, Sabrina S; Stemmerik, Mads G MG; Durmus, Hacer H; Kierdaszuk, Biruta B; Wakelin, Andrew A; Andreu, Antoni L AL; Pinós, Tomàs T; Marti, Ramon R; Quinlivan, Ros R; Vissing, John J; ,
Publication Date: 2020-11-24
Variant appearance in text: HR: 613G>A; G205S
PubMed Link:
33234167
Variant Present in the following documents:
13023_2020_Article_1562.pdf
View BVdb publication page