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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LEPR

Variant:p.S1040*

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LEPR

NM_002303.6:p.S1040*

hg38:chr1:65636636 C>A

Associated Papers

Monoallelic pathogenic variants in LEPR do not cause obesity.

Delplanque J et al.

American Journal of Human Genetics, 2024

39561769 (PubMed )

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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."