Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.S180delFs
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EXT1

NM_000127.3:p.S180delFs

Associated Papers

Genotype and phenotype correlation analysis in 27 families with multiple osteochondroma and validation by ATDC5 chondrocyte models.

Guo X et al.

Bone & Joint Research, 2025

Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response.

Beijer D et al.

Life Science Alliance, 2021

Peripheral chondrosarcoma progression is associated with increased type X collagen and vascularisation.

de Andrea CE et al.

Virchows Archiv : an International Journal of Pathology, 2012

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas.

Reijnders CM et al.

The American Journal of Pathology, 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."