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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:F12

Variant:p.A388V

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F12

NM_000505.4:p.A388V

hg38:chr5:177403946 G>A

Associated Papers

The human induced pluripotent stem cell line CTGUi-002A was generated from a Perrault syndrome patient.

Wu SL et al.

Stem Cell Research, 2026

41722370 (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."