Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.R2150H
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FBN1

NM_000138.5:p.R2150H

Associated Papers

Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.

Repiská G et al.

Genes, 2025

Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria.

Shin JH et al.

European Journal of Human Genetics : Ejhg, 2025

40169830 (PubMed )
Supplement: 41431_2025_1826_MOESM4_ESM.xlsx › Supplementary_Table_3

Developing a more accurate population frequency of Marfan syndrome from predicted pathogenic FBN1 variants in the gnomAD cohorts.

Choi K et al.

Scientific Reports, 2025

40102521 (PubMed )
Supplement: 41598_2025_93832_MOESM1_ESM.xlsx › FBN1

Phosphoproteomic profiling of T cell acute lymphoblastic leukemia reveals targetable kinases and combination treatment strategies.

Cordo' V et al.

Nature Communications, 2022

35217681 (PubMed )
Supplement: 41467_2022_28682_MOESM4_ESM.xlsx › Supplementary_Data_1

The Effects of Neoadjuvant Chemoradiation in Locally Advanced Rectal Cancer-The Impact in Intratumoral Heterogeneity.

Bettoni F et al.

Frontiers in Oncology, 2019

31612112 (PubMed )
Supplement: Table_4.XLSX › Supplementary_Table_4
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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."