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Identification of Pathogenic Variants in the Brazilian Cohort with Familial Hypercholesterolemia Using Exon-Targeted Gene Sequencing.

Jessica Bassani Borges,Victor Fernandes Oliveira,Carolina Dagli-Hernandez,Glaucio Monteiro Ferreira,Thais Kristini Almendros Afonso Barbosa,Elisangela da Silva Rodrigues Marcal,Bruna Los,Vanessa Barbosa Malaquias,Raul Hernandes Bortolin,Renata Caroline Costa Freitas,Augusto Akira Mori,Gisele Medeiros Bastos,Rodrigo Marques Goncalves,Daniel Branco Araujo,Henry Zatz,Adriana Bertolami,Andre Arpad Faludi,Marcelo Chiara Bertolami,Amanda Guerra de Moraes Rego Souza,Joao Italo Dias Franca,Helena Strelow Thurow,Thiago Dominguez Crespo Hirata,Helder Takashi Imoto Nakaya,Cinthia Elim Jannes,Alexandre da Costa Pereira, Vivian Nogueira Silbiger,Andre Ducati Luchessi, Jessica Nayara Goes Araujo,Marcelo Arruda Nakazone,Tayanne Silva Carmo,Doroteia Rossi Silva Souza,Patricia Moriel,Jaqueline Yu Ting Wang,Michel Satya Naslavsky,Renata Gorjao,Tania Cristina Pithon-Curi, Rui Curio,Cristina Moreno Fajardo, Hui-Tzu Lin Wang, Adriana Regina Garofalo,Alvaro Cerda, Marcelo Ferraz Sampaio, Rosario Dominguez Crespo Hirata, Mario Hiroyuki Hirata

Gene（2023）

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关键词
Familial hypercholesterolemia,Exon-targeted gene sequencing,Molecular diagnosis,Single nucleotide variant,Brazilian cohort
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