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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SF3B2

Variant:p.R554*

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SF3B2

NM_006842.3:p.R554*

hg38:chr11:66060612 C>T

Associated Papers

Splicing Defects and Cell Death Cause SF3B2-Linked Craniofacial Microsomia.

Rao S et al.

Journal of Dental Research, 2025

40275713 (PubMed )

The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.

Spedicati B et al.

Biomedicines, 2023

36979683 (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."