Varaico: Literature-Extracted Genetic Variants

Gene:FBN2
Variant:p.P2426T
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FBN2

NM_001999.4:p.P2426T

Associated Papers

Exome sequencing uncovers promising candidate genes for foetal structural malformations.

Sudhakar DV et al.

The Indian Journal of Medical Research, 2025

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_lato
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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."