Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.C167Y
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NF1

NM_001042492.3:p.C167Y

Associated Papers

The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.

Hudler P et al.

Genes, 2022

Novel genotype-phenotype correlations in five Chinese families with Von Hippel-Lindau disease.

Liu Q et al.

Endocrine Connections, 2018

Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.

Pandit R et al.

European Journal of Endocrinology, 2016

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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."