Publications:

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Sperm morphological abnormalities in autosomal dominant polycystic kidney disease are associated with the Hippo signaling pathway via PC1.

Frontiers In Endocrinology

Shi, Wei-Hui WH; Zhou, Zhi-Yang ZY; Ye, Mu-Jin MJ; Qin, Ning-Xin NX; Jiang, Zi-Ru ZR; Zhou, Xuan-You XY; Xu, Nai-Xin NX; Cao, Xian-Lin XL; Chen, Song-Chang SC; Huang, He-Feng HF; Xu, Chen-Ming CM

Publication Date: 2023

Variant appearance in text: PKD1: 9578C>T; Pro3193Leu

PubMed Link: 37152951

Variant Present in the following documents:

• Main text
• fendo-14-1130536.pdf

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A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.

Kidney International Reports

Lindemann, Christoph Heinrich CH; Wenzel, Andrea A; Erger, Florian F; Middelmann, Lea L; Borde, Julika J; Hahnen, Eric E; Krauß, Denise D; Oehm, Simon S; Arjune, Sita S; Todorova, Polina P; Burgmaier, Kathrin K; Liebau, Max Christoph MC; Grundmann, Franziska F; Beck, Bodo B BB; Müller, Roman-Ulrich RU

Publication Date: 2023-03

Variant appearance in text: PKD1: 9578C>T; P3193L

PubMed Link: 36938073

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

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Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: PKD1: P3193L

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: PKD1: P3193L

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: PKD1: 9578C>T; P3193L

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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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: 9578C>T; P3193L

PubMed Link: 27782177

Variant Present in the following documents:

• srep35945-s1.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: PKD1: P3193L

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PKD1: P3193L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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