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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL18A1

Variant:p.K909_G910Splc

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COL18A1

NM_001379500.1:p.K909_G910Splc

hg38:chr21:45504414 A>G

Associated Papers

Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.

Ji L et al.

The Journal of Clinical Investigation, 2025

40608414 (PubMed )

Supplement: jci-135-186119-s227.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."