Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.E78D
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HNF1B

NM_000458.4:p.E78D

Associated Papers

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Hwang DY et al.

Kidney International, 2014

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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."