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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ETNPPL

Variant:p.A123P

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ETNPPL

NM_031279.4:p.A123P

hg38:chr4:108756461 C>G

Associated Papers

Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes.

Harms FL et al.

European Journal of Human Genetics : Ejhg, 2025

40158061 (PubMed )

Supplement: 41431_2025_1839_MOESM1_ESM.docx

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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."