Identification of Germinal Neurofibromin Hotspots.

Lois, Sergio; Báez-Flores, Juan; Isidoro-García, María; Lacal, Jesus; Triviño, Juan Carlos

Lois, Sergio; Báez-Flores, Juan; Isidoro-García, María; Lacal, Jesus; Triviño, Juan Carlos.

Afiliação

Lois S; Department of Bioinformatics, Sistemas Genómicos, 46980 Paterna, Spain.
Báez-Flores J; Institute for Biomedical Research of Salamanca (IBSAL), 37007 Salamanca, Spain.
Isidoro-García M; Laboratory of Functional Genetics of Rare Diseases, Department of Microbiology and Genetics, University of Salamanca, 37007 Salamanca, Spain.
Lacal J; Institute for Biomedical Research of Salamanca (IBSAL), 37007 Salamanca, Spain.
Triviño JC; Department of Clinical Biochemistry, University Hospital of Salamanca, 37007 Salamanca, Spain.

Biomedicines ; 10(8)2022 Aug 21.

Article em En | MEDLINE | ID: mdl-36009591

Palavras-chave

NF1; germinal variants; neurofibromatosis type 1; neurofibromin; pathogenic variants

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Guideline Idioma: En Revista: Biomedicines Ano de publicação: 2022 Tipo de documento: Article

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