Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.C2142delFs
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FBN1

NM_000138.5:p.C2142delFs

Associated Papers

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships.

Lauffer P et al.

American Journal of Medical Genetics. Part A, 2023

36380655 (PubMed )
Supplement: AJMG-191-479-s002.xlsx › Blad1
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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."