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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXT1

Variant:p.S130_Y131insGA

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EXT1

NM_000127.3:p.S130_Y131insGA

hg38:chr8:118110659 T>TNNNNNN

Associated Papers

Clinical Characteristics and Mutation Spectrum of Neurofibromatosis Type 1 in 27 Turkish Families.

Sharifi S et al.

Balkan Medical Journal, 2021

34860164 (PubMed )

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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."