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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTB

Variant:p.S2057_W2061delins

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SPTB

NM_001355436.2:p.S2057_W2061delins

hg38:chr14:64767700 CAGCTGGCCGTG>AGCTGGGGT

Associated Papers

Genetic Mutations of Congenital Red Cell Membrane Defects in Hydrops Fetalis.

Komvilaisak P et al.

Fetal Diagnosis and Therapy, 2025

40875716 (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."