Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.G2691D
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FBN1

NM_000138.5:p.G2691D

Associated Papers

A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.

Klemenzdottir EO et al.

European Journal of Human Genetics : Ejhg, 2024

37684520 (PubMed )
Supplement: 41431_2023_1455_MOESM4_ESM.xlsx › FBN1_variants

Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy.

Dietz S et al.

Oncotarget, 2017

29088767 (PubMed )
Supplement: oncotarget-08-74049-s002.xlsx › Patient_4_-_1._Progress

Systematic genomic and translational efficiency studies of uveal melanoma.

Johnson CP et al.

Plos One, 2017

28594900 (PubMed )
Supplement: pone.0178189.s006.xls › Trio_2
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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."