Response to Horta et al.

Lai, Abbe; Soucy, Aubrie; Yang, Edward; Yu, Timothy; Poduri, Annapurna

Response to Horta et al.

Lai, Abbe; Soucy, Aubrie; Yang, Edward; Yu, Timothy; Poduri, Annapurna.

Afiliação

Lai A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA.
Soucy A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.
Yang E; Department of Radiology, Boston Children's Hospital and Harvard Medical School, Boston, MA.
Yu T; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA.
Poduri A; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA. Electronic address: annapurna.poduri@child

Genet Med ; : 101215, 2024 Jul 14.

Article em En | MEDLINE | ID: mdl-39011767

Palavras-chave

ACMG criteria; In-frame deletion; Interpretation; MTOR; Somatic mosaicism

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2024 Tipo de documento: Article País de publicação: Estados Unidos

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