Publications:

Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations.

International Journal Of Molecular Sciences

Alfen, Franziska F; Putscher, Elena E; Hecker, Michael M; Zettl, Uwe Klaus UK; Hermann, Andreas A; Lukas, Jan J

Publication Date: 2022-12-03

Variant appearance in text: GLA: 194G>T; Ser65Ile

PubMed Link: 36499585

Variant Present in the following documents:

• Main text
• ijms-23-15261.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: S65I

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.

Plos Genetics

Lukas, Jan J; Giese, Anne-Katrin AK; Markoff, Arseni A; Grittner, Ulrike U; Kolodny, Ed E; Mascher, Hermann H; Lackner, Karl J KJ; Meyer, Wolfgang W; Wree, Phillip P; Saviouk, Viatcheslav V; Rolfs, Arndt A

Publication Date: 2013

Variant appearance in text: GLA: S65I

PubMed Link: 23935525

Variant Present in the following documents:

• Main text
• pgen.1003632.pdf

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