Varaico: Literature-Extracted Genetic Variants

Gene:EML3
Variant:p.R269H
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EML3

NM_153265.3:p.R269H

Associated Papers

Rare dentin defects: Understanding the pathophysiological mechanisms of COLXVA1 mutations.

Bugueno IM et al.

Genes & Diseases, 2024

38721411 (PubMed )
Supplement: mmc2.pdf

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S13
Select a paper to view details
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