Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.H229L
Back to variants list

FBN1

NM_000138.5:p.H229L

Associated Papers

Integrative genomic analyses of European intrahepatic cholangiocarcinoma: Novel ROS1 fusion gene and PBX1 as prognostic marker.

Plum PS et al.

Clinical and Translational Medicine, 2024

38877653 (PubMed )
Supplement: CTM2-14-e1723-s002.xlsx › STab_5_WES_validation_deep_NGS

Difficulties in diagnosing Marfan syndrome using current FBN1 databases.

Groth KA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations.

Pees C et al.

Clinical Genetics, 2014

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

Yang RQ et al.

Bmc Genetics, 2014

The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma.

Wu G et al.

Nature Genetics, 2014

24705251 (PubMed )
Supplement: NIHMS573627-supplement-2.xlsx › ST5
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."