Publications:

Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease.

Orphanet Journal Of Rare Diseases

Dai, Xuantong X; Zong, Xue X; Pan, Xiaoxia X; Lu, Wei W; Jiang, Geng-Ru GR; Lin, Fujun F

Publication Date: 2022-06-20

Variant appearance in text: GLA: Arg196Thr

PubMed Link: 35725559

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2377.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GLA: R196T

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: GLA: R196T

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

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Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

Plos One

Pan, Xiaoxia X; Ouyang, Yan Y; Wang, Zhaohui Z; Ren, Hong H; Shen, Pingyan P; Wang, Weiming W; Xu, Yaowen Y; Ni, Liyan L; Yu, Xialian X; Chen, Xiaonong X; Zhang, Wen W; Yang, Li L; Li, Xiao X; Xu, Jing J; Chen, Nan N

Publication Date: 2016

Variant appearance in text: GLA: 587G>C; R196T

PubMed Link: 27560961

Variant Present in the following documents:

• Main text
• pone.0161330.pdf

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