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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCP4

Variant:p.E3_R4Splc

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PCP4

NM_006198.3:p.E3_R4Splc

hg38:chr21:39896888 G>A

Associated Papers

Deep learning analyses of splicing variants identify the link of PCP4 with amyotrophic lateral sclerosis.

Tang X et al.

Brain : a Journal of Neurology, 2025

39852553 (PubMed )

Supplement: awaf025_supplementary_data.zip › brain-2024-02282-File010.pdf

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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."