Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.G248Splc
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EXT2

NM_207122.2:p.G248Splc

Associated Papers

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index

Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas.

Xu Y et al.

Molecular Medicine Reports, 2017

A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.

Tian C et al.

Plos One, 2014

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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."