Publications:

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: FLNA: E82V

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.

Bmc Medical Genetics

Cannaerts, Elyssa E; Shukla, Anju A; Hasanhodzic, Mensuda M; Alaerts, Maaike M; Schepers, Dorien D; Van Laer, Lut L; Girisha, Katta M KM; Hojsak, Iva I; Loeys, Bart B; Verstraeten, Aline A

Publication Date: 2018-08-08

Variant appearance in text: FLNA: Glu82Val

PubMed Link: 30089473

Variant Present in the following documents:

• Main text
• 12881_2018_Article_655.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs28935169

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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47 patients with FLNA associated periventricular nodular heterotopia.

Orphanet Journal Of Rare Diseases

Lange, Max M; Kasper, Burkhard B; Bohring, Axel A; Rutsch, Frank F; Kluger, Gerhard G; Hoffjan, Sabine S; Spranger, Stephanie S; Behnecke, Anne A; Ferbert, Andreas A; Hahn, Andreas A; Oehl-Jaschkowitz, Barbara B; Graul-Neumann, Luitgard L; Diepold, Katharina K; Schreyer, Isolde I; Bernhard, Matthias K MK; Mueller, Franziska F; Siebers-Renelt, Ulrike U; Beleza-Meireles, Ana A; Uyanik, Goekhan G; Janssens, Sandra S; Boltshauser, Eugen E; Winkler, Juergen J; Schuierer, Gerhard G; Hehr, Ute U

Publication Date: 2015-10-15

Variant appearance in text: FLNA: Glu82Val

PubMed Link: 26471271

Variant Present in the following documents:

• Main text
• 13023_2015_Article_331.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: FLNA: E82V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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