Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.G201R
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FBN1

NM_000138.5:p.G201R

Associated Papers

Neuroblastoma arises in early fetal development and its evolutionary duration predicts outcome.

Körber V et al.

Nature Genetics, 2023

36973454 (PubMed )
Supplement: 41588_2023_1332_MOESM4_ESM.xlsx › Supplementary_Table_7

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Najafi A et al.

Clinical Genetics, 2020

31506931 (PubMed )
Supplement: CGE-97-235-s003.xlsx › FBN1_sensu_lato

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1
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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."