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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTA1

Variant:p.Y1466*

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SPTA1

NM_003126.4:p.Y1466*

hg38:chr1:158643366 A>T

Associated Papers

Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia.

Gallagher PG et al.

The Journal of Clinical Investigation, 2019

31038472 (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."