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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CBS

Variant:p.I278fs

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CBS

NM_000071.3:p.I278fs

hg38:chr21:43063075 AAT>N

Associated Papers

Identification of Monogenic Causes of Arterial Ischemic Stroke in Children with Arteriopathies by Next-Generation Sequencing.

Balcerzyk-Matić A et al.

International Journal of Molecular Sciences, 2025

40650005 (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."