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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMPCA

Variant:p.R470Splc

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PMPCA

NM_015160.3:p.R470Splc

hg38:chr9:136421977 G>A

Associated Papers

Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.

Stutterd CA et al.

European Journal of Medical Genetics, 2022

35803560 (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."