Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.N78Y
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NF1

NM_001042492.3:p.N78Y

Associated Papers

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

Liu Q et al.

Endocrine Connections, 2018

An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.

Gossage L et al.

Human Molecular Genetics, 2014

24969085 (PubMed )
Supplement: supp_ddu321_ddu321supp.docx
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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."