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A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family

Split-hand/foot malformation (SHFM) shows diverse heterogeneity and manifests with reduced penetrance and variable expressivity. This study investigated the underlying genetic cause of a family segregating SHFM. Exome sequencing followed by Sanger sequencing identified a novel single nucleotide hete...

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Detalles Bibliográficos
Autores principales:	Parveen, Asia, Tariq, Muhammad, Khan, Sher Alam, Kakar, Naseebullah, Arif, Amina, Wasif, Naveed
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2023
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10206101/ https://www.ncbi.nlm.nih.gov/pubmed/37221169 http://dx.doi.org/10.1038/s41439-023-00242-z

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