Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.S1391_V1392Splc
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NF1

NM_001042492.3:p.S1391_V1392Splc

Associated Papers

Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.

Stella A et al.

Genes, 2018

NF1 Mutations Are Common in Desmoplastic Melanoma.

Wiesner T et al.

The American Journal of Surgical Pathology, 2015

Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.

Welander J et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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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."