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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTBN1

Variant:p.Y307*

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SPTBN1

NM_003128.3:p.Y307*

hg38:chr2:54622344 T>A

Associated Papers

Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.

Kablan A et al.

Clinical Genetics, 2025

40189899 (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."