Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.D378delins
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EYA1

NM_000503.6:p.D378delins

Associated Papers

Diagnostic Utility of Whole Genome Sequencing After Negative Karyotyping/Chromosomal Microarray in Infants Born With Multiple Congenital Anomalies.

Yang M et al.

Journal of Korean Medical Science, 2024

A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling.

Kim DH et al.

Children (basel, Switzerland), 2022

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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."