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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKHD1

Variant:p.T3628I

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PKHD1

NM_138694.4:p.T3628I

hg38:chr6:51659243 G>A

Associated Papers

Exome analysis links kidney malformations to developmental disorders and reveals causal genes.

Milo Rasouly H et al.

Nature Communications, 2025

40774958 (PubMed )

Supplement: 41467_2025_62319_MOESM1_ESM.pdf

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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."