Associated Papers
Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.
Brown JR et al.
Blood, 2026
41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc5.xlsx › Sheet_1
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Williamson KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31700164 (PubMed )
Supplement: 41436_2019_685_MOESM12_ESM.xlsx › Paralogs
A new missense mutation in the paired domain of the mouse Pax3 gene.
Ohno T et al.
Experimental Animals, 2017
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.
Wildhardt G et al.
Bmj Open, 2013
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