Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.E72K
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EXT1

NM_000127.3:p.E72K

Associated Papers

Comprehensive genomic and epigenomic analysis in cancer of unknown primary guides molecularly-informed therapies despite heterogeneity.

Möhrmann L et al.

Nature Communications, 2022

35918329 (PubMed )
Supplement: 41467_2022_31866_MOESM7_ESM.xlsx › 4.1_germline_variants

Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses.

Cousminer DL et al.

Bone, 2016

Evaluation of the anatomic burden of patients with hereditary multiple exostoses.

Alvarez CM et al.

Clinical Orthopaedics and Related Research, 2007

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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."