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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEC

Variant:p.A2066T

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PLEC

NM_000445.5:p.A2066T

hg38:chr8:143923814 C>T

Associated Papers

Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.

Izumi R et al.

Neurology. Genetics, 2015

27066573 (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."