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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PHB2

Variant:p.Y128_E129insFs

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PHB2

NM_001144831.2:p.Y128_E129insFs

hg38:chr12:6968503 C>CG

Associated Papers

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

Paznekas WA et al.

American Journal of Human Genetics, 1998

9585583 (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."