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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC35B2

Variant:p.R408fs

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SLC35B2

NM_178148.4:p.R408fs

hg38:chr6:44254783 TCT>N

Associated Papers

Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities.

Pehlivan D et al.

American Journal of Human Genetics, 2026

41734767 (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."