Varaico: Literature-Extracted Genetic Variants

Gene:IARS1
Variant:p.R444*
Back to variants list

IARS1

NM_002161.6:p.R444*

Associated Papers

Pulmonary alveolar proteinosis and anemia may be associated with poor prognosis in patients with IARS1 variants.

Li SY et al.

Orphanet Journal of Rare Diseases, 2025

Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project.

Huang Z et al.

Kidney International Reports, 2023

38025242 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2
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."