Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R1554Splc
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NF1

NM_000267.3:p.R1554Splc

Associated Papers

Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.

D'Amico A et al.

Clinical Genetics, 2021

Identification of a missense mutation causing exon skipping in a neurofibromatosis type 1 patient.

Fu Y et al.

The Journal of Dermatology, 2018

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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."