Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.S73*
Back to variants list

PAX3

NM_181458.4:p.S73*

Associated Papers

Decoding structural birth defects through genomic landscapes: Innovative frameworks for diagnosis (Review).

Xu R et al.

International Journal of Molecular Medicine, 2026

Correction to "SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic-related fetal hydrops and facial dysmorphology".

Unknown Author

Clinical Genetics, 2024

SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic-related fetal hydrops and facial dysmorphology.

Vanden Broek K et al.

Clinical Genetics, 2024

Loss-of-function de novo mutations play an important role in severe human neural tube defects.

Lemay P et al.

Journal of Medical Genetics, 2015

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."