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: NEB: 19455G>A

PubMed Link: 31395899

Variant Present in the following documents:

• 41598_2019_47849_MOESM1_ESM.pdf

View BVdb publication page

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: NEB: 19455G>A

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page