Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL2
Variant:p.V771V
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ADAMTSL2

NM_014694.4:p.V771V

Associated Papers

A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

Moresco G et al.

Genes & Genomics, 2025

39467966 (PubMed )
Supplement: 13258_2024_1589_MOESM1_ESM.xlsx › Foglio1

A Novel Mutation in the ADAMTS10 Associated with Weil-Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart.

Levitas A et al.

International Journal of Molecular Sciences, 2023

37240210 (PubMed )
Supplement: ijms-24-08864-s001.zip › ijms-2375138-supplementary.pdf

MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.

Rinner B et al.

Scientific Reports, 2017

28522871 (PubMed )
Supplement: 41598_2017_2197_MOESM1_ESM.pdf
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