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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SEPSECS

Variant:p.L454I

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SEPSECS

NM_016955.4:p.L454I

hg38:chr4:25124077 G>T

Associated Papers

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )

Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed

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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."