Varaico: Literature-Extracted Genetic Variants

Gene:CER1
Variant:p.R19W
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CER1

NM_005454.3:p.R19W

Associated Papers

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyB

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

Variants in the GH-IGF axis confer susceptibility to lung cancer.

Rudd MF et al.

Genome Research, 2006

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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."