Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.R197Q
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ENG

NM_001114753.3:p.R197Q

Associated Papers

Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

Prigoda NL et al.

Journal of Medical Genetics, 2006

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Abdalla SA et al.

Journal of Medical Genetics, 2006

Differences in allelic distribution of two polymorphisms in the VHL-associated gene CUL2 in pheochromocytoma patients without somatic CUL2 mutations.

Duerr EM et al.

The Journal of Clinical Endocrinology and Metabolism, 1999

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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."