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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEC

Variant:p.L5L

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PLEC

NM_201378.4:p.L5L

hg38:chr8:143973460 G>A

Associated Papers

Mutation update: The spectra of PLEC sequence variants and related plectinopathies.

Vahidnezhad H et al.

Human Mutation, 2022

35815343 (PubMed )

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