Varaico: Literature-Extracted Genetic Variants

Gene:FBN2
Variant:p.D2449N
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FBN2

NM_001999.4:p.D2449N

Associated Papers

Genetic landscape in Russian patients with familial left ventricular noncompaction.

Meshkov AN et al.

Frontiers in Cardiovascular Medicine, 2023

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Najafi A et al.

Clinical Genetics, 2020

31506931 (PubMed )
Supplement: CGE-97-235-s003.xlsx › FBN2_sensu_stricto
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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."