Varaico: Literature-Extracted Genetic Variants

Gene:LOXHD1
Variant:p.R1508K
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LOXHD1

NM_001384474.1:p.R1508K

Associated Papers

GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.

Rashid I et al.

Nar Genomics and Bioinformatics, 2025

41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Conflicting_Pathogenicity_

Targeted next-generation sequencing analysis in Italian patients with keratoconus.

Lombardo M et al.

Eye (london, England), 2024

Next-generation sequencing improves precision medicine in hearing loss.

Imizcoz T et al.

Frontiers in Genetics, 2023

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