Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.G560V
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FBN1

NM_000138.5:p.G560V

Associated Papers

Genetic insights from a Brazilian cohort of aortopathies through targeted next-generation sequencing and FBN1 direct sequencing.

Rocha Ferreira J et al.

Scientific Reports, 2024

Protein domains provide a new layer of information for classifying human variations in rare diseases.

Corcuff M et al.

Frontiers in Bioinformatics, 2023

36896423 (PubMed )
Supplement: Table2.DOCX
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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."