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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPEF1

Variant:p.S64_F65insT

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PPEF1

NM_001377996.1:p.S64_F65insT

hg38:chrX:18733763 T>TNNN

Associated Papers

Prenatal Evaluation of RNU4-2 Variants in Fetuses With Central Nervous System Anomalies.

Chen Y et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025

41449851 (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."