Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L2517F
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NF1

NM_000267.3:p.L2517F

Associated Papers

A Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report

Qin S et al.

Journal of Clinical Research in Pediatric Endocrinology, 2023

Pheochromocytomas are diagnosed incidentally and at older age in neurofibromatosis type 1.

Moramarco J et al.

Clinical Endocrinology, 2017

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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."