Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.K1444del1
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NF1

NM_001042492.3:p.K1444del1

Associated Papers

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

Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.

Nemethova M et al.

Annals of Human Genetics, 2013

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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."