Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.A2287D
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PLEC

NM_201384.3:p.A2287D

Associated Papers

'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.

Garibaldi M et al.

Acta Neuropathologica Communications, 2019

30611313 (PubMed )
Supplement: 40478_2018_655_MOESM1_ESM.xlsx › document_recapitulatif
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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."