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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBN1

Variant:p.H2685R

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FBN1

NM_000138.5:p.H2685R

hg38:chr15:48412741 T>C

Associated Papers

Phenotypic Heterogeneity of Patients With Marfan Syndrome in Puerto Rico: A Case Series.

Jiménez-Berríos GA et al.

Cureus, 2024

39376868 (PubMed )

Uncovering an Unusual FBN1 Gene Mutation Responsible for Marfan Syndrome: A Case Study.

Jiménez-Berríos GA et al.

Cureus, 2024

38826987 (PubMed )

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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."