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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SEC24D

Variant:p.Y1011_S1014delins

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SEC24D

NM_014822.4:p.Y1011_S1014delins

hg38:chr4:118723574 AGCCTCCGTA>G

Associated Papers

Phenotypic Expansion: Fetus With Cole-Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia.

Burrill N et al.

American Journal of Medical Genetics. Part A, 2025

39780448 (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."