Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.L161fs
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LEP

NM_000230.3:p.L161fs

Associated Papers

Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature.

Mazen IH et al.

Molecular Genetics and Genomics : Mgg, 2023

Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database.

Rajcsanyi LS et al.

Plos One, 2022

36121795 (PubMed )
Supplement: pone.0266642.s003.pdf
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