Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.E196Splc
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NF1

NM_001042492.3:p.E196Splc

Associated Papers

Inflammatory Rhabdomyoblastic Tumor: Clinicopathologic and Molecular Analysis of 13 Cases.

Odate T et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2024

TRIM28 haploinsufficiency predisposes to Wilms tumor.

Diets IJ et al.

International Journal of Cancer, 2019

Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.

Bonatti F et al.

International Journal of Molecular Sciences, 2017

28961165 (PubMed )
Supplement: ijms-18-02071-s001.pdf
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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."