A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations (2024)
- Authors:
- USP affiliated authors: FISHMAN, VENIAMIN - IB ; PINHEIRO, MARA MARIA LISBOA SANTANA - IB ; ROSENBERG, CARLA - IB ; KREPISCHI, ANA CRISTINA VICTORINO - IB ; COSTA, SILVIA SOUZA DA - IB
- Unidade: IB
- DOI: 10.21203/rs.3.rs-3740005/v1
- Subjects: ESTENOSE DA VALVA AÓRTICA; ARTÉRIA PULMONAR
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Publisher place: Heidelberg
- Date published: 2024
- Source:
- Título: Chromosome Research: the international journal for all aspects of chromosome and nuclear biology
- ISSN: 0967-3849
- Volume/Número/Paginação/Ano: v. 32, n. 6, 2024
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
COSTA, Silvia Souza da et al. A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations. Chromosome Research: the international journal for all aspects of chromosome and nuclear biology, v. 32, n. 6, 2024Tradução . . Disponível em: https://doi.org/10.21203/rs.3.rs-3740005/v1. Acesso em: 03 mar. 2026. -
APA
Costa, S. S. da, Fishman, V., Pinheiro, M., Rodrigueiro, A., Sanseverino, M. T., Zielinsky, P., et al. (2024). A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations. Chromosome Research: the international journal for all aspects of chromosome and nuclear biology, 32( 6). doi:10.21203/rs.3.rs-3740005/v1 -
NLM
Costa SS da, Fishman V, Pinheiro M, Rodrigueiro A, Sanseverino MT, Zielinsky P, Carvalho CMB, Rosenberg C, Krepischi ACV. A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations [Internet]. Chromosome Research: the international journal for all aspects of chromosome and nuclear biology. 2024 ; 32( 6):[citado 2026 mar. 03 ] Available from: https://doi.org/10.21203/rs.3.rs-3740005/v1 -
Vancouver
Costa SS da, Fishman V, Pinheiro M, Rodrigueiro A, Sanseverino MT, Zielinsky P, Carvalho CMB, Rosenberg C, Krepischi ACV. A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations [Internet]. Chromosome Research: the international journal for all aspects of chromosome and nuclear biology. 2024 ; 32( 6):[citado 2026 mar. 03 ] Available from: https://doi.org/10.21203/rs.3.rs-3740005/v1 - Does increase in genomic microarray resolution result in increased diagnostic yield?
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Informações sobre o DOI: 10.21203/rs.3.rs-3740005/v1 (Fonte: oaDOI API)
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