Varaico: Literature-Extracted Genetic Variants

Gene:MEOX1
Variant:p.R222*
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MEOX1

NM_004527.4:p.R222*

Associated Papers

Reviewing the Genetic and Molecular Foundations of Congenital Spinal Deformities: Implications for Classification and Diagnosis.

Samarkhanova D et al.

Journal of Clinical Medicine, 2025

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1

Of mice, men, and King Tut: autosomal recessive Klippel-Feil syndrome is caused by mutations in MEOX1.

Rosti RO

Clinical Genetics, 2013

Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.

Mohamed JY et al.

American Journal of Human Genetics, 2013

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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."