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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POMT2

Variant:p.G443delins

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POMT2

NM_013382.7:p.G443delins

hg38:chr14:77286747 GC>AT

Associated Papers

Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.

Meilleur KG et al.

Journal of Neuropathology and Experimental Neurology, 2014

24709677 (PubMed )

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