Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R1748P
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NF1

NM_000267.3:p.R1748P

Associated Papers

An Atypical Mechanism of SUMOylation of Neurofibromin SecPH Domain Provides New Insights into SUMOylation Site Selection.

Bergoug M et al.

Journal of Molecular Biology, 2024

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.

Polla DL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Cerebral vasculopathy in a Chinese family with neurofibromatosis type I mutation.

Liang JT et al.

Neuroscience Bulletin, 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."