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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HNF1B

Variant:p.E78_D85del0

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HNF1B

NM_000458.4:p.E78_D85del0

hg38:chr17:37744630 GTCGTCGCCGTCCTCGGAGCCC>G

Associated Papers

Preimplantation genetic testing for monogenic disorders (PGT-M) for monogenic nephropathy: a single-center retrospective cohort analysis.

Liu X et al.

Clinical Kidney Journal, 2025

39802589 (PubMed )

Supplement: sfae356_supplemental_file.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."