Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.H1144R
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FBN1

NM_000138.5:p.H1144R

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
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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."