Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.R346I
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EXT1

NM_000127.3:p.R346I

Associated Papers

Evaluating seven bioinformatics platforms for tertiary analysis of genomic data from whole exome sequencing in a pilot group of patients.

Bastida-Lertxundi N et al.

Advances in Laboratory Medicine, 2025

A Genotype-Phenotype Study of Multiple Hereditary Exostoses in Forty-Three Patients.

Kim S et al.

Journal of Clinical Medicine, 2022

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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."