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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIP5K1C

Variant:p.S318fs

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PIP5K1C

NM_012398.3:p.S318fs

hg38:chr19:3652001 GCT>N

Associated Papers

Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3.

Zhang F et al.

Bmc Pediatrics, 2024

38491417 (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."