Varaico: Literature-Extracted Genetic Variants

Gene:LRP1B
Variant:p.V3711Splc
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LRP1B

NM_018557.3:p.V3711Splc

Associated Papers

Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid.

Sangiorgi E et al.

Genes, 2023

38002998 (PubMed )
Supplement: genes-14-02055-s001.zip › supplementaryTable1.xlsx › PassengerMutationsVM

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.

Niceta M et al.

American Journal of Human Genetics, 2015

25865493 (PubMed )
Supplement: mmc1.pdf
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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."