Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.V2657Splc
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NF1

NM_001042492.3:p.V2657Splc

Associated Papers

A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis.

Lin T et al.

Frontiers in Genetics, 2025

Cost-effectiveness of Genetic Testing of Endocrine Tumor Patients Using a Comprehensive Hereditary Cancer Gene Panel.

Patócs A et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

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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."