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Dissecting role of founder mutation p.V727M in GNE in Indian HIBM cohort

GNE gene-specific c.2179G>A(p.V727M) is a key alteration reported in patients with hereditary inclusion body myopathy (HIBM) and represents an ethnic founder mutation in the Indian cohort. However, the underlying role of this mutation in pathogenesis remains largely unknown. Thus, in this study,...

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Detalles Bibliográficos
Autores principales:	Attri, Shivangi, Sharma, Vikas, Kumar, Amit, Verma, Chaitenya, Gahlawat, Suresh Kumar
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	De Gruyter 2021
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8593392/ https://www.ncbi.nlm.nih.gov/pubmed/34825065 http://dx.doi.org/10.1515/med-2021-0391

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