Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes.

Smirnov, Dmitrii; Schlieben, Lea D; Peymani, Fatemeh; Berutti, Riccardo; Prokisch, Holger

Smirnov, Dmitrii; Schlieben, Lea D; Peymani, Fatemeh; Berutti, Riccardo; Prokisch, Holger.

Afiliação

Smirnov D; School of Medicine, Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Schlieben LD; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, Germany.
Peymani F; School of Medicine, Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Berutti R; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, Germany.
Prokisch H; School of Medicine, Institute of Human Genetics, Technical University of Munich, Munich, Germany.

Hum Mutat ; 43(8): 1056-1070, 2022 08.

Article em En | MEDLINE | ID: mdl-35645004

Assuntos

Variação Genética; RNA; Humanos; Fenótipo; RNA/genética; Análise de Sequência de DNA; Virulência

Palavras-chave

RNA sequencing; guidelines; rare disorders; variant interpretation

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / RNA Tipo de estudo: Guideline Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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