Publications:

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Polygenic risk affects the penetrance of monogenic kidney disease.

Medrxiv : The Preprint Server For Health Sciences

Khan, Atlas A; Shang, Ning N; Nestor, Jordan G JG; Weng, Chunhua C; Hripcsak, George G; Harris, Peter C PC; Gharavi, Ali G AG; Kiryluk, Krzysztof K

Publication Date: 2023-05-10

Variant appearance in text: PKD1: Q4042X

PubMed Link: 37214819

Variant Present in the following documents:

• media-1.xlsx, sheet 2
• media-1.xlsx, sheet 3

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Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease.

Journal Of Research In Medical Sciences : The Official Journal Of Isfahan University Of Medical Sciences

Bitarafan, Fatemeh F; Garshasbi, Masoud M

Publication Date: 2019

Variant appearance in text: PKD1: 12124C>T; Gln4042Ter

PubMed Link: 31160911

Variant Present in the following documents:

• Main text
• JRMS-24-44.pdf

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System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.

Scientific Reports

Jin, Meiling M; Xie, Yuansheng Y; Chen, Zhiqiang Z; Liao, Yujie Y; Li, Zuoxiang Z; Hu, Panpan P; Qi, Yan Y; Yin, Zhiwei Z; Li, Qinggang Q; Fu, Ping P; Chen, Xiangmei X

Publication Date: 2016-10-26

Variant appearance in text: PKD1: 12124C>T; Q4042*

PubMed Link: 27782177

Variant Present in the following documents:

• srep35945-s1.pdf

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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: 12124C>T; Gln4042Ter

PubMed Link: 25266109

Variant Present in the following documents:

• Main text

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New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics

Stekrova, Jitka J; Reiterova, Jana J; Svobodova, Stanislava S; Kebrdlova, Vera V; Lnenicka, Petr P; Merta, Miroslav M; Viklicky, Ondrej O; Kohoutova, Milada M

Publication Date: 2009-08-17

Variant appearance in text: PKD1: 12124C>T; Q4042X

PubMed Link: 19686598

Variant Present in the following documents:

• Main text
• 1471-2350-10-78.pdf

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PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics

Vouk, Katja K; Strmecki, Lana L; Stekrova, Jitka J; Reiterova, Jana J; Bidovec, Matjaz M; Hudler, Petra P; Kenig, Anton A; Jereb, Simona S; Zupanic-Pajnic, Irena I; Balazic, Joze J; Haarpaintner, Guido G; Leskovar, Bostjan B; Adamlje, Anton A; Skoflic, Antun A; Dovc, Reina R; Hojs, Radovan R; Komel, Radovan R

Publication Date: 2006-01-23

Variant appearance in text: PKD1: 12124C>T

PubMed Link: 16430766

Variant Present in the following documents:

• Main text
• 1471-2350-7-6.pdf

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