Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Q27*
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NF1

NM_001042492.3:p.Q27*

Associated Papers

WITHDRAWN: Clinical findings and mutational spectrum of neurofibromatosis type 1 patients in a single center of south part of Turkey.

Demir Gündoğan B et al.

Turkish Journal of Medical Sciences, 2021

Empirically downgrading 10 constitutional missense variants of the NF1 gene based on co-existing truncating variants.

Kluwe L et al.

American Journal of Medical Genetics. Part A, 2021

Clinical and molecular characterization of neurofibromatosis in southern Brazil.

Rosset C et al.

Expert Review of Molecular Diagnostics, 2018

Genomic Profiling of Large-Cell Neuroendocrine Carcinoma of the Lung.

Miyoshi T et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

27507618 (PubMed )
Supplement: 10780432ccr160355-sup-162074_1_supp_3593422_88n10b.xlsx › Supplementary_Table_7_
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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."