Varaico: Literature-Extracted Genetic Variants

Gene:FBN2
Variant:p.D2191N
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FBN2

NM_001999.4:p.D2191N

Associated Papers

Exemestane plus everolimus and palbociclib in metastatic breast cancer: clinical response and genomic/transcriptomic determinants of resistance in a phase I/II trial.

Gómez Tejeda Zañudo J et al.

Nature Communications, 2024

38503755 (PubMed )
Supplement: 41467_2024_45835_MOESM7_ESM.xlsx › Mutation_calls_-_WES

Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.

Harvey DC et al.

Frontiers in Cardiovascular Medicine, 2023

37840956 (PubMed )
Supplement: Table1.xlsx › Supp_Table_1

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.

Edwards JJ et al.

Jacc. Basic to Translational Science, 2020

32368696 (PubMed )
Supplement: mmc3.xlsx › Cases

Novel insights into the genetic landscape of congenital heart disease with systems genetics.

Gabriel GC et al.

Progress in Pediatric Cardiology, 2019

Cilia and Ciliopathies in Congenital Heart Disease.

Klena NT et al.

Cold Spring Harbor Perspectives in Biology, 2017

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Kosmicki JA et al.

Nature Genetics, 2017

28191890 (PubMed )
Supplement: NIHMS845776-supplement-5.xlsx › Congenital_Heart_Disease

High throughput in vivo functional validation of candidate congenital heart disease genes in Drosophila.

Zhu JY et al.

Elife, 2017

28084990 (PubMed )
Supplement: elife-22617-supp1.xlsx › Sheet1

De novo mutations in histone-modifying genes in congenital heart disease.

Zaidi S et al.

Nature, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."