Varaico: Literature-Extracted Genetic Variants

Gene:EXTL3
Variant:p.D164H
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EXTL3

NM_001440.4:p.D164H

Associated Papers

Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.

Cheung PK et al.

American Journal of Human Genetics, 2001

EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.

Bovée JV et al.

American Journal of Human Genetics, 1999

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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."