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Application of Multigene Panels Testing for Hereditary Cancer Syndromes.

Airat BilyalovSergey NikolaevLeila ShigapovaIgor KhatkovAnastasia DanishevichLudmila ZhukovaSergei SmolinMarina TitovaTatyana LisicaNatalia BodunovaElena I ShagimardanovaOleg Gusev
Published in: Biology (2022)
Multigene panel testing allows for a differential diagnosis and identification of high-risk group for oncological diseases. Our results demonstrate that inclusion of non-coding gene regions into HCPS gene panels is highly important for the identification of rare spliceogenic variants with high penetrance.
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