Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing.

Kurolap, Alina; Mory, Adi; Simchoni, Sharon; Krajden Haratz, Karina; Malinger, Gustavo; Birnbaum, Roee; Baris Feldman, Hagit; Yaron, Yuval

Kurolap, Alina; Mory, Adi; Simchoni, Sharon; Krajden Haratz, Karina; Malinger, Gustavo; Birnbaum, Roee; Baris Feldman, Hagit; Yaron, Yuval.

Afiliação

Kurolap A; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Mory A; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Simchoni S; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Krajden Haratz K; Division of Ultrasound in Obstetrics and Gynecology, Lis Maternity and Hospital for Women's Health, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Malinger G; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Birnbaum R; Division of Ultrasound in Obstetrics and Gynecology, Lis Maternity and Hospital for Women's Health, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Baris Feldman H; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Yaron Y; Division of Ultrasound in Obstetrics and Gynecology, Lis Maternity and Hospital for Women's Health, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Prenat Diagn ; 42(12): 1484-1487, 2022 11.

Article em En | MEDLINE | ID: mdl-36221156

Assuntos

Disseminação de Informação; Sítios de Splice de RNA; Éxons; Mutação; Íntrons

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sítios de Splice de RNA / Disseminação de Informação Idioma: En Revista: Prenat Diagn Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Israel

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