Varaico: Literature-Extracted Genetic Variants

Gene:PNKD
Variant:p.R101Q
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PNKD

NM_015488.5:p.R101Q

Associated Papers

A case report of a family with developmental arrest of human prokaryotic stage zygote.

Ma T et al.

Frontiers in Cell and Developmental Biology, 2024

38606321 (PubMed )
Supplement: Table3.XLSX › snp.merged.1000g.func.syn.sift.
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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."