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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEKHG5

Variant:p.L612_K620delFs

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PLEKHG5

NM_020631.6:p.L612_K620delFs

hg38:chr1:6469616 CCTTCTTCACTGCTTTGGTCACCAACA>C

Associated Papers

Leukoencephalopathy and conduction blocks in PLEKHG5-associated intermediate CMT disease.

Villar-Quiles RN et al.

Neuromuscular Disorders : Nmd, 2021

34244018 (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."