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The use of segregation analysis in interpretation of sequence variants in SMAD3: A case report

BACKGROUND: While representing a significant improvement, the introduction of next‐generation sequencing in genetic diagnosis also prompted new challenges. Despite widely recognized consensus guidelines for the interpretation of sequence variants, many variants remain unclassified or are discordantl...

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Detalles Bibliográficos
Autores principales:	Ratajska, Aleksandra, Vigeland, Magnus D., Wirgenes, Katrine Verena, Krohg‐Sørensen, Kirsten, Paus, Benedicte
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9938750/ https://www.ncbi.nlm.nih.gov/pubmed/36495030 http://dx.doi.org/10.1002/mgg3.2107

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