Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.Q227*
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FBN1

NM_000138.5:p.Q227*

Associated Papers

Whole-Exome Sequencing Among School-Aged Children With High Myopia.

Yu X et al.

Jama Network Open, 2023

New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.

Yang RQ et al.

Bmc Genetics, 2014

24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.

Rossetti S et al.

American Journal of Human Genetics, 2001

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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."