Varaico: Literature-Extracted Genetic Variants

Gene:MTX2
Variant:p.Q181_V182Splc
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MTX2

NM_006554.5:p.Q181_V182Splc

Associated Papers

Genome-wide selection analysis identifies genes associated with mandibular defects in Duolang sheep.

Cao H et al.

Frontiers in Veterinary Science, 2025

A novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome.

Yeter Doğan B et al.

American Journal of Medical Genetics. Part A, 2023

Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.

Boonsawat P et al.

Npj Genomic Medicine, 2022

35906228 (PubMed )
Supplement: 41525_2022_316_MOESM3_ESM.xlsx › Supplementary_Table_4b
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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."