Publications:

The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field.

International Journal Of Molecular Sciences

Sorriento, Daniela D; Iaccarino, Guido G

Publication Date: 2021-01-29

Variant appearance in text: GLA: 270C>G; Cys90Trp

PubMed Link: 33572752

Variant Present in the following documents:

• Main text
• ijms-22-01331.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: C90W

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Genotype⁻Phenotype Correlation in a New Fabry-Disease-Causing Mutation.

Medicina (Kaunas, Lithuania)

Čerkauskaitė, Agnė A; Čerkauskienė, Rimantė R; Miglinas, Marius M; Laurinavičius, Arvydas A; Ding, Can C; Rolfs, Arndt A; Vencevičienė, Lina L; Barysienė, Jūratė J; Kazėnaitė, Edita E; Sadauskienė, Eglė E

Publication Date: 2019-05-07

Variant appearance in text: GLA: 270C>G; Cys90Trp

PubMed Link: 31067829

Variant Present in the following documents:

• Main text
• medicina-55-00122.pdf

View BVdb publication page