Varaico: Literature-Extracted Genetic Variants

Gene:CREB3L3
Variant:p.L244insFs
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CREB3L3

NM_032607.3:p.L244insFs

Associated Papers

Molecular Genetic Architecture of Morbid Obesity in Russian Children.

Minniakhmetov IR et al.

Biomedicines, 2025

A Comprehensive Review of the Genetics of Dyslipidemias and Risk of Atherosclerotic Cardiovascular Disease.

Kalwick M et al.

Nutrients, 2025

Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.

Jauss RT et al.

Genes, 2022

36553572 (PubMed )
Supplement: genes-13-02305-s001.zip › genes-2014296-supplementary.xlsx › Supplementary_Table_1

Loss-of-Function CREB3L3 Variants in Patients With Severe Hypertriglyceridemia.

Dron JS et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2020

32580631 (PubMed )
Supplement: atvb_atvb-2020-314168d_supp1.pdf

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.

Johnston JJ et al.

American Journal of Human Genetics, 2015

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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."