Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.L206S
Back to variants list

ELANE

NM_001972.4:p.L206S

Associated Papers

Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.

Lin F et al.

The Journal of Molecular Diagnostics : Jmd, 2024

Genetic screening of children with marrow failure. The role of primary Immunodeficiencies.

Miano M et al.

American Journal of Hematology, 2021

Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.

Lauhasurayotin S et al.

Npj Genomic Medicine, 2019

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."