Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.N420_S421Splc
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NF1

NM_001042492.3:p.N420_S421Splc

Associated Papers

Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature.

Freire BL et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.

Corsello G et al.

Italian Journal of Pediatrics, 2018

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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."