Publications:

Autosomal Dominant Polycystic Kidney Disease: Presence of Hypomorphic Alleles in PKD1 Gene.

Indian Journal Of Nephrology

Pandita, S S; Khullar, D D; Saxena, R R; Verma, I C IC

Publication Date: 2018

Variant appearance in text: PKD1: Tyr3819Ter

PubMed Link: 30647506

Variant Present in the following documents:

• Main text

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Polycystic liver diseases: advanced insights into the molecular mechanisms.

Nature Reviews. Gastroenterology & Hepatology

Perugorria, Maria J MJ; Masyuk, Tatyana V TV; Marin, Jose J JJ; Marzioni, Marco M; Bujanda, Luis L; LaRusso, Nicholas F NF; Banales, Jesus M JM

Publication Date: 2014-12

Variant appearance in text: PKD1: 11457C>A; Tyr3819Ter

PubMed Link: 25266109

Variant Present in the following documents:

• Main text

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Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.

Kidney International

Rossetti, Sandro S; Kubly, Vickie J VJ; Consugar, Mark B MB; Hopp, Katharina K; Roy, Sushmita S; Horsley, Sharon W SW; Chauveau, Dominique D; Rees, Lesley L; Barratt, T Martin TM; van't Hoff, William G WG; Niaudet, Patrick P; Niaudet, W Patrick WP; Torres, Vicente E VE; Harris, Peter C PC

Publication Date: 2009-04

Variant appearance in text: PKD1: Y3819X

PubMed Link: 19165178

Variant Present in the following documents:

• Main text

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