Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR? by Paixão, Daniele, Lima, Thalitta Hetamaro Ayala, de Souza, Rafaela Rogério Floriano, Carnavalli, Juliana Emilia Prior, Picanço-Albuquerque, Clarissa Gondim, Silva-Fernandes, Isabelle Joyce de Lima, de Barros Silva, Paulo Goberlânio, Mitne-Neto, Miguel, Moreira, Caroline Mônaco, Baratela, Wagner Antônio da Rosa

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EVALUATION OF AGREEMENT BETWEEN C/T-13910 POLYMORPHISM GENOTYPING RESULTS AND LACTOSE TOLERANCE TEST RESULTS: A RETROSPECTIVE POPULATION-BASED STUDY IN BRAZIL by Cavichio, Marcia Wehba Esteves, Quaio, Caio Robledo D'Angioli Costa, Baratela, Wagner Antonio da Rosa, Oliveira, Patrícia Marinho Costa de, Tahan, Soraia

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Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases by Quaio, Caio Robledo D’Angioli Costa, Obando, María José Rivadeneira, Perazzio, Sandro Felix, Dutra, Aurelio Pimenta, Chung, Christine Hsiaoyun, Moreira, Caroline Monaco, Novo Filho, Gil Monteiro, Sacramento-Bobotis, Patricia Rossi, Penna, Michele Groenner, Souza, Rafaela Rogerio Floriano de, Cintra, Vivian Pedigone, Carnavalli, Juliana Emilia Prior, Silva, Rafael Alves da, Santos, Monize Nakamoto Provisor, Paixão, Daniele, Baratela, Wagner Antonio da Rosa, Olivati, Caroline, Spolador, Gustavo Marquezani, Pintao, Maria Carolina, Fornari, Alexandre Ricardo dos Santos, Burger, Matheus, Ramalho, Rodrigo Fernandes, Pereira, Otavio Jose Eulalio, Ferreira, Elisa Napolitano e, Mitne-Neto, Miguel, Kim, Chong Ae

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P075: Evaluation of PMS2 gene variant c.2182_2184delinsG by NGS in a Brazilian sample: How long-range PCR can solve homology? by Paixão, Daniele, Lima, Thalitta Hetamaro Ayala, Bueno, Larissa Souza Mario, de Souza, Rafaela Rogério Floriano, Carnavalli, Juliana Emilia Prior, Picanço-Albuquerque, Clarissa Gondim, de Lima Silva-Fernandes, Isabelle Joyce, de Barros Silva, Paulo Goberlânio, Mitne-Neto, Miguel, da Rosa Baratela, Wagner Antônio, Moreira, Caroline Mônaco

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Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients by Quaio, Caio Robledo D'Angioli Costa, Chung, Christine Hsiaoyun, Perazzio, Sandro Felix, Dutra, Aurelio Pimenta, Moreira, Caroline Monaco, Filho, Gil Monteiro Novo, Sacramento‐Bobotis, Patricia Rossi, Penna, Michele Groenner, Souza, Rafaela Rogerio Floriano, Cintra, Vivian Pedigone, Carnavalli, Juliana Emilia Prior, Silva, Rafael Alves, Paixão, Daniele, Baratela, Wagner Antonio da Rosa, Olivati, Caroline, Spolador, Gustavo Marquezani, Santos, Monize Nakamoto Provisor, Pintao, Maria Carolina, Fornari, Alexandre Ricardo dos Santos, Burger, Matheus, Ramalho, Rodrigo Fernandes, Pereira, Otavio Jose Eulalio, Ferreira, Elisa Napolitano, Mitne‐Neto, Miguel, Kim, Chong Ae

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Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases by Quaio, Caio Robledo, Moreira, Caroline Monaco, Novo Filho, Gil Monteiro, Sacramento-Bobo, Patricia Rossi, Perazzio, Sandro Felix, Dutra, Aurelio Pimenta, Penna, Michele Groenner, da Silva, Rafael Alves, Ramalho, Rodrigo Fernandes, de Sousa, Rafaela Rogerio Floriano, Mitne-Neto, Miguel, da Rosa Baratela, Wagner Antonio, Kim, Chong Ae

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eP105 - Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases by Quaio, Caio Robledo, Moreira, Caroline Monaco, Novo Filho, Gil Monteiro, Sacramento-Bobo, Patricia Rossi, Perazzio, Sandro Felix, Dutra, Aurelio Pimenta, Penna, Michele Groenner, da Silva, Rafael Alves, Ramalho, Rodrigo Fernandes, de Sousa, Rafaela Rogerio Floriano, Mitne-Neto, Miguel, da Rosa Baratela, Wagner Antonio, Kim, Chong Ae

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ODP547 Familial Carney Complex: Follow Up of a Family With Negative PRKAR1A Genetic Screening by Araújo, Jacqueline Montalvão, Cançado, Natalia Amaral, Cherniauskas de Souza Morikawa, Vanessa, Asato, Marilia Tomiyoshi, Antonio da Rosa Baratela, Wagner, Bueno, Cristina Belotti Formiga, da Cunha Scalço Tirapelli, Renata, Dolci, Ricardo Landini Lutaif, Leite dos Santos, Americo Rubens, da Silva, Maria Antonieta Longo Galvão, Krakauer, Rogerio, Scalissi, Nilza Maria, Lima Junior, Jose Viana

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