Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.D44V
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LEP

NM_000230.3:p.D44V

Associated Papers

Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.

Butchbach MER

International Journal of Molecular Sciences, 2021

Human GPR17 missense variants identified in metabolic disease patients have distinct downstream signaling profiles.

Conley JM et al.

The Journal of Biological Chemistry, 2021

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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."