Varaico: Literature-Extracted Genetic Variants

Gene:CER1
Variant:p.A65G
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CER1

NM_005454.3:p.A65G

Associated Papers

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Bateman NW et al.

Iscience, 2022

35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A

Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Reimann E et al.

Human Genomics, 2014

25496518 (PubMed )
Supplement: 40246_2014_20_MOESM1_ESM.xlsx › Sheet1

Novel sequence variations in the CER1 gene are strongly associated with low bone mineral density and risk of osteoporotic fracture in postmenopausal women.

Koromila T et al.

Calcified Tissue International, 2012

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.

Swinkels ME et al.

American Journal of Medical Genetics. Part A, 2008

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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."