Varaico: Literature-Extracted Genetic Variants

Gene:COL5A3
Variant:p.N226Y
Back to variants list

COL5A3

NM_015719.4:p.N226Y

Associated Papers

Genetic mutations in lymphocytic variant of hypereosinophilic syndrome: study of five siblings.

Walkenhorst M et al.

Frontiers in Medicine, 2025

41488087 (PubMed )
Supplement: Table_1.xlsx › Data

Hypermobile Ehlers-Danlos syndrome: A review and a critical appraisal of published genetic research to date.

Scicluna K et al.

Clinical Genetics, 2022

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3

Absence of apparent disease causing mutations in COL5A3 in 13 patients with hypermobility Ehlers-Danlos syndrome.

Hoffman GG et al.

American Journal of Medical Genetics. Part A, 2008

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."