Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.T1612I
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PKHD1

NM_138694.4:p.T1612I

Associated Papers

Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.

Nigro E et al.

Genes, 2023

37372416 (PubMed )
Supplement: genes-14-01236-s001.zip › Supplementary_Tables_S2-S5.pdf

An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.

Eisenberger T et al.

Plos One, 2015

25646624 (PubMed )
Supplement: pone.0116680.s016.pdf
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