Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R2089fs
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PKD1

NM_001009944.3:p.R2089fs

Associated Papers

Targeted Next Generation Sequencing Revealed Novel Variants in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant Polycystic Kidney Disease.

Hosseinpour M et al.

Archives of Iranian Medicine, 2022

37543885 (PubMed )
Supplement: aim-25-600-s003.xlsx › PKD1_2__PKHD1

Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease.

Al Alawi I et al.

Kidney International Reports, 2019

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