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

FETAL PHENOTYPE: A couple of Ashkenazi Jewish descent was referred for an early anatomy scan at 14 + 2 weeks of gestation following a previous pregnancy termination due to posterior encephalocele and enlarged kidneys. The index pregnancy was also positive for several fetal abnormalities, including e...

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Detalles Bibliográficos
Autores principales: Kurolap, Alina, Mory, Adi, Simchoni, Sharon, Krajden Haratz, Karina, Malinger, Gustavo, Birnbaum, Roee, Baris Feldman, Hagit, Yaron, Yuval
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Curation Corner: Fetal Phenotype:Genotype Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9828675/
https://www.ncbi.nlm.nih.gov/pubmed/36221156
http://dx.doi.org/10.1002/pd.6248

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9828675/
https://www.ncbi.nlm.nih.gov/pubmed/36221156
http://dx.doi.org/10.1002/pd.6248

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