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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMPCB

Variant:p.W385Splc

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PMPCB

NM_004279.3:p.W385Splc

hg38:chr7:103310480 G>C

Associated Papers

Integration of multi-omics technologies for molecular diagnosis in ataxia patients.

Audet S et al.

Frontiers in Genetics, 2023

38239855 (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."