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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPFIBP1

Variant:p.R620Q

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PPFIBP1

NM_003622.4:p.R620Q

hg38:chr12:27680025 G>A

Associated Papers

Clinical and genetic analysis of trichohepatoneurodevelopmental syndrome caused by a CCDC47 variant.

Yang Q et al.

Heliyon, 2024

38524542 (PubMed )

Supplement: mmc1.xls › Sheet1

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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."