Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.K218fs
Back to variants list

EXT1

NM_000127.3:p.K218fs

Associated Papers

Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series.

Gnoli M et al.

Orphanet Journal of Rare Diseases, 2024

Natural history of KBG syndrome in a large European cohort.

Loberti L et al.

Human Molecular Genetics, 2022

35861666 (PubMed )
Supplement: table_s2_ddac167.xlsx › Foglio2

A transcriptional network of cell cycle dysregulation in noninvasive papillary urothelial carcinoma.

Warrick JI et al.

Scientific Reports, 2022

36192513 (PubMed )
Supplement: 41598_2022_20927_MOESM14_ESM.xlsx › mutations

Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas.

Li Y et al.

Medicine, 2018

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.

Santos SCL et al.

Molecular Genetics & Genomic Medicine, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."