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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NCDN

Variant:p.A486_C491delFs

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NCDN

NM_014284.3:p.A486_C491delFs

hg38:chr1:35563271 GGCCCCCTCGCTTCTGT>G

Associated Papers

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.

Fatima A et al.

American Journal of Human Genetics, 2021

33711248 (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."