Publications:

ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.

Scientific Reports

Jarmula, Adam A; Łusakowska, Anna A; Fichna, Jakub P JP; Topolewska, Malgorzata M; Macias, Anna A; Johnson, Katherine K; Töpf, Ana A; Straub, Volker V; Rosiak, Edyta E; Szczepaniak, Krzysztof K; Dunin-Horkawicz, Stanisław S; Maruszak, Aleksandra A; Kaminska, Anna M AM; Redowicz, Maria Jolanta MJ

Publication Date: 2019-08-08

Variant appearance in text: RYR1: 2521C>G

PubMed Link: 31395899

Variant Present in the following documents:

• Main text

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