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bibliographicCitation Eyries M, Ariste O, Legrand G, Basset N, Guillerm E, Perrier A, Duros C, Cohen-Haguenauer O, de la Grange P, Coulet F. Detection of a pathogenic Alu element insertion in PALB2 gene from targeted NGS diagnostic data. European Journal of Human Genetics. 2022 Mar 11;30(10):1187–90. doi: 10.1038/s41431-022-01064-3.
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title Detection of a pathogenic Alu element insertion in PALB2 gene from targeted NGS diagnostic data
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