Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R1849Splc
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NF1

NM_000267.3:p.R1849Splc

Associated Papers

Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.

Perez-Becerril C et al.

Human Mutation, 2021

Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.

Nyström AM et al.

Clinical Genetics, 2009

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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."