Varaico: Literature-Extracted Genetic Variants

Gene:FBN2
Variant:p.D548A
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FBN2

NM_001999.4:p.D548A

Associated Papers

Patient tissue-derived FGFR4-variant and wild-type colorectal cancer organoid development and anticancer drug sensitivity testing.

Lin H et al.

Heliyon, 2024

38826758 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction.

Zhou N et al.

Journal of Medical Genetics, 2024

Genetic variants in Chinese patients with sporadic Stanford type A aortic dissection.

Chen ZR et al.

Journal of Thoracic Disease, 2021

Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.

Zu B et al.

Computational and Structural Biotechnology Journal, 2021

34194672 (PubMed )
Supplement: mmc1.xlsx › S3

A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five-generation Chinese family.

Zhou S et al.

Clinical Case Reports, 2018

Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.

Sakai H et al.

American Journal of Medical Genetics. Part A, 2006

RNA-editing terminal uridylyl transferase 1: identification of functional domains by mutational analysis.

Aphasizheva I et al.

The Journal of Biological Chemistry, 2004

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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."