A mutation can hide another one: Think Structural Variants!

Miressi, Federica; Faye, Pierre-Antoine; Pyromali, Ioanna; Bourthoumieux, Sylvie; Derouault, Paco; Husson, Marie; Favreau, Frédéric; Sturtz, Franck; Magdelaine, Corinne; Lia, Anne-Sophie

Miressi, Federica; Faye, Pierre-Antoine; Pyromali, Ioanna; Bourthoumieux, Sylvie; Derouault, Paco; Husson, Marie; Favreau, Frédéric; Sturtz, Franck; Magdelaine, Corinne; Lia, Anne-Sophie.

Afiliação

Miressi F; Univ. Limoges, MMNP, EA 6309, F-87000 Limoges, France.
Faye PA; Univ. Limoges, MMNP, EA 6309, F-87000 Limoges, France.
Pyromali I; CHU Limoges, Service de Biochimie et Génétique Moléculaire, F-87000 Limoges, France.
Bourthoumieux S; Univ. Limoges, MMNP, EA 6309, F-87000 Limoges, France.
Derouault P; Univ. Limoges, MMNP, EA 6309, F-87000 Limoges, France.
Husson M; CHU Limoges, Service de Cytogénétique, F-87000 Limoges, France.
Favreau F; CHU Limoges, Service de Bioinformatique, F-87000 Limoges, France.
Sturtz F; CHU Bordeaux, Service de Neurologie, F-33076 Bordeaux, France.
Magdelaine C; Univ. Limoges, MMNP, EA 6309, F-87000 Limoges, France.
Lia AS; CHU Limoges, Service de Biochimie et Génétique Moléculaire, F-87000 Limoges, France.

Comput Struct Biotechnol J ; 18: 2095-2099, 2020.

Article em En | MEDLINE | ID: mdl-32832037

Palavras-chave

Charcot-Marie-Tooth; CovCopCan; Diagnosis; NGS; Structural Variants

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Comput Struct Biotechnol J Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França

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