Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.E1713*
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PKHD1

NM_138694.4:p.E1713*

Associated Papers

[Diagnosis of a case of autosomal recessive polycystic kidney disease with combined prenatal imaging and genetic testing].

Lu Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021

Possible PKHD1 Hot-spot Mutations Related to Early Kidney Function Failure or Hepatofibrosis in Chinese Children with ARPKD: A Retrospective Single Center Cohort Study and Literature Review.

Qiu LR et al.

Current Medical Science, 2020

Clonal architectures and driver mutations in metastatic melanomas.

Ding L et al.

Plos One, 2014

25393105 (PubMed )
Supplement: pone.0111153.s002.zip › File_S2 › Table_S11.xls › Supp_Table_11
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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."