Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.Q2382*
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PLEC

NM_000445.5:p.Q2382*

Associated Papers

Genetic Implications and Management of Epidermolysis Bullosa in the Saudi Arabian Population.

Shehata NA et al.

Cureus, 2024

Genetic Profile of Epidermolysis Bullosa Cases in King Abdulaziz Medical City, Riyadh, Saudi Arabia.

Alharthi R et al.

Frontiers in Genetics, 2021

'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."