Your browser doesn't support javascript.
loading
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 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 en En | MEDLINE | ID: mdl-36221156
Asunto(s)
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Sitios de Empalme de ARN / Difusión de la Información Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Sitios de Empalme de ARN / Difusión de la Información Idioma: En Año: 2022 Tipo del documento: Article