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TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia
INTRODUCTION: Skeletal dysplasia is a common, clinically and genetically heterogeneous disorder in the human population. An increasing number of different genes are being identified causing this disorder. We used whole exome sequencing (WES) for detection of skeletal dysplasia causing mutation in a...
Autores principales: | Mohajeri, Mahsa Sadat Asl, Eslahi, Atieh, Khazaii, Zeinab, Moradi, Mohammad Reza, Pazhoomand, Reza, Farrokhi, Shima, Feizabadi, Masoumeh Heidari, Alizadeh, Farzaneh, Mojarrad, Majid |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8268343/ https://www.ncbi.nlm.nih.gov/pubmed/34238371 http://dx.doi.org/10.1186/s40246-021-00343-2 |
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