RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12-related disorder.

Bhola, Priya T; Marshall, Aren E; Liang, Yijing; Couse, Madeline; Wang, Xueqi; Miller, Elka; Morel, Chantal F; Boycott, Kym M; Kernohan, Kristin D

Bhola, Priya T; Marshall, Aren E; Liang, Yijing; Couse, Madeline; Wang, Xueqi; Miller, Elka; Morel, Chantal F; Boycott, Kym M; Kernohan, Kristin D.

Afiliação

Bhola PT; Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Marshall AE; University of Ottawa, Ottawa, Ontario, Canada.
Liang Y; University of Ottawa, Ottawa, Ontario, Canada.
Couse M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Wang X; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Miller E; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Morel CF; University of Ottawa, Ottawa, Ontario, Canada.
Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Kernohan KD; Department of Medical Imaging, The Hospital for Sick Children, Toronto, Ontario, Canada.

Am J Med Genet A ; 191(6): 1664-1668, 2023 06.

Article em En | MEDLINE | ID: mdl-36995918

Assuntos

Splicing de RNA; Humanos; Mutação; Sequência de Bases; Sequenciamento do Exoma; Análise de Sequência de RNA; Íntrons/genética

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Splicing de RNA Limite: Humans Idioma: En Revista: Am J Med Genet A Ano de publicação: 2023 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google