Varaico: Literature-Extracted Genetic Variants

Gene:PAX1
Variant:p.G166A
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PAX1

NM_001257096.2:p.G166A

Associated Papers

Wiedemann-Steiner Syndrome: Case Report and Review of Literature.

Yu H et al.

Children (basel, Switzerland), 2022

36291481 (PubMed )
Supplement: children-09-01545-s001.zip › children-1912335-supplementary.pdf

Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants.

Chan AJS et al.

Npj Genomic Medicine, 2019

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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."