Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.S1619F
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PKD1

NM_001009944.3:p.S1619F

Associated Papers

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Carrera P et al.

Scientific Reports, 2016

27499327 (PubMed )
Supplement: srep30850-s7.xls › Sheet1

Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.

Paul BM et al.

Kidney International, 2014

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