Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: FBN1: C1947F

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Amino Acid and Phospholipid Metabolism as an Indicator of Inflammation and Subtle Cardiomyopathy in Patients with Marfan Syndrome.

Metabolites

Bartenbach, Lisa L; Karall, Thomas T; Koch, Jakob J; Keller, Markus Andreas MA; Oberacher, Herbert H; Scholl-Bürgi, Sabine S; Karall, Daniela D; Oemer, Gregor G; Baumgartner, Daniela D; Meinel, Katharina K; Aly, Safwat S; Odri-Komazec, Irena I; Geiger, Ralf R; Michel, Miriam M

Publication Date: 2021-11-27

Variant appearance in text: FBN1: 5840G>T; C1947F

PubMed Link: 34940564

Variant Present in the following documents:

• Main text
• metabolites-11-00805.pdf

View BVdb publication page

Amino Acid and Phospholipid Metabolism as an Indicator of Inflammation and Subtle Cardiomyopathy in Patients with Marfan Syndrome.

Metabolites

Bartenbach, Lisa L; Karall, Thomas T; Koch, Jakob J; Keller, Markus Andreas MA; Oberacher, Herbert H; Scholl-Bürgi, Sabine S; Karall, Daniela D; Oemer, Gregor G; Baumgartner, Daniela D; Meinel, Katharina K; Aly, Safwat S; Odri-Komazec, Irena I; Geiger, Ralf R; Michel, Miriam M

Publication Date: 2021-11-27

Variant appearance in text: FBN1: 5840G>T; C1947F

PubMed Link: 34940564

Variant Present in the following documents:

• Main text
• metabolites-11-00805.pdf

View BVdb publication page