Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.Y119*
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EXT1

NM_000127.3:p.Y119*

Associated Papers

Clinical utility of liquid biopsy and integrative genomic profiling in early-stage and oligometastatic cancer patients treated with radiotherapy.

Cifuentes GA et al.

British Journal of Cancer, 2023

36550207 (PubMed )
Supplement: 41416_2022_2102_MOESM7_ESM.xlsx › Supplementary_table_4

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

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.

Wuyts W et al.

Human Mutation, 2000

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

Wuyts W et al.

American Journal of Human Genetics, 1998

Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.

Raskind WH et al.

Human Mutation, 1998

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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."