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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POMT1

Variant:p.H687fs

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POMT1

NM_007171.4:p.H687fs

hg38:chr9:131522214 CAC>N

Associated Papers

Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy.

Chong YK et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2014

24657014 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."