Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.C980Y
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FBN1

NM_000138.5:p.C980Y

Associated Papers

Genetic models of fibrillinopathies.

Summers KM

Genetics, 2024

Human stem cell models for Marfan syndrome: a brief overview of the rising star in disease modelling.

Aalders J et al.

Frontiers in Cell and Developmental Biology, 2024

Reprogramming of a human induced pluripotent stem cell line from a Marfan syndrome patient harboring a heterozygous mutation of c.2939G > A in FBN1 gene.

Qin Z et al.

Stem Cell Research, 2021

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.

Yang RQ et al.

Bmc Genetics, 2014

24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx
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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."