Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.K123fs
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EXT1

NM_000127.3:p.K123fs

Associated Papers

Millennium-old pathogenic Mendelian mutation discovery for multiple osteochondromas from a Gaelic Medieval graveyard.

Jackson I et al.

European Journal of Human Genetics : Ejhg, 2023

36443465 (PubMed )
Supplement: EMS155735-supplement-Supplemental_tables.xlsx › Table_S5_Variants_within_50bp_S

Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years.

Guo XL et al.

Journal of Huazhong University of Science and Technology. Medical Sciences = Hua Zhong Ke Ji Da Xue Xue Bao. Yi Xue Ying De Wen Ban = Huazhong Keji Daxue Xuebao. Yixue Yingdewen Ban, 2014

Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses.

Pei Y et al.

Genetic Testing and Molecular Biomarkers, 2010

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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."