Varaico: Literature-Extracted Genetic Variants

Gene:LEPR
Variant:p.R92W
Back to variants list

LEPR

NM_002303.6:p.R92W

Associated Papers

Monoallelic pathogenic variants in LEPR do not cause obesity.

Delplanque J et al.

American Journal of Human Genetics, 2024

Computational and artificial neural network based study of functional SNPs of human LEPR protein associated with reproductive function.

Gandhi Muruganandhan S et al.

Journal of Cellular Biochemistry, 2019

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 › 20160703_supplemental_data_FINAL_160706.docx
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."