Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.A249G
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RET

NM_020975.6:p.A249G

Associated Papers

Validating Comprehensive Next-Generation Sequencing Results for Precision Oncology: The NCT/DKTK Molecularly Aided Stratification for Tumor Eradication Research Experience.

Lier A et al.

Jco Precision Oncology, 2018

35135162 (PubMed )
Supplement: ds_po.18.00171-2.pdf

A novel intronic mutation, 2988G>A, with high predictivity for impaired function of cytochrome P450 2D6 in white subjects.

Raimundo S et al.

Clinical Pharmacology and Therapeutics, 2004

Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.

Bonaventure J et al.

American Journal of Medical Genetics, 1996

[Association of achondroplasia to a mutation in the transmembrane domain of fibroblastic growth factor receptor 3 (FGFR3)].

Rousseau F et al.

Annales D'endocrinologie, 1996

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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."