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Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients

Familial hypercholesterolemia (FH) is an inherited, autosomal dominant metabolic disorder mostly associated with disease-causing variant in LDLR, APOB or PCSK9. Although the dominant changes are small-scale missense, frameshift and splicing variants, approximately 10% of molecularly defined FH cases...

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Detalles Bibliográficos
Autores principales:	Rutkowska, Lena, Pinkier, Iwona, Sałacińska, Kinga, Kępczyński, Łukasz, Salachna, Dominik, Lewek, Joanna, Banach, Maciej, Matusik, Paweł, Starostecka, Ewa, Lewiński, Andrzej, Płoski, Rafał, Stawiński, Piotr, Gach, Agnieszka
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407502/ https://www.ncbi.nlm.nih.gov/pubmed/36011335 http://dx.doi.org/10.3390/genes13081424

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