Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs4881400

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs4881400

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Interaction between dietary acrylamide intake and genetic variants for estrogen receptor-positive breast cancer risk.

European Journal Of Nutrition

Hogervorst, Janneke G F JGF; van den Brandt, Piet A PA; Godschalk, Roger W L RWL; van Schooten, Frederik-Jan FJ; Schouten, Leo J LJ

Publication Date: 2019-04

Variant appearance in text: rs4881400

PubMed Link: 29445914

Variant Present in the following documents:

View BVdb publication page

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An Integrative Genomics Approach for Associating Genome-Wide Association Studies Information With Localized and Metastatic Prostate Cancer Phenotypes.

Biomarker Insights

Hicks, Chindo C; Ramani, Ritika R; Sartor, Oliver O; Bhalla, Ritu R; Miele, Lucio L; Dlamini, Zodwa Z; Gumede, Njabulo N

Publication Date: 2017

Variant appearance in text: rs4881400

PubMed Link: 28469398

Variant Present in the following documents:

• Main text
• TableSA.pdf
• 10.1177_1177271917695810.pdf

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Quality of life effects of androgen deprivation therapy in a prostate cancer cohort in New Zealand: can we minimize effects using a stratification based on the aldo-keto reductase family 1, member C3 rs12529 gene polymorphism?

Bmc Urology

Karunasinghe, Nishi N; Zhu, Yifei Y; Han, Dug Yeo DY; Lange, Katja K; Zhu, Shuotun S; Wang, Alice A; Ellett, Stephanie S; Masters, Jonathan J; Goudie, Megan M; Keogh, Justin J; Benjamin, Benji B; Holmes, Michael M; Ferguson, Lynnette R LR

Publication Date: 2016-08-02

Variant appearance in text: rs4881400

PubMed Link: 27485119

Variant Present in the following documents:

• Main text
• 12894_2016_Article_164.pdf

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Basal and Regulatory Promoter Studies of the AKR1C3 Gene in Relation to Prostate Cancer.

Frontiers In Pharmacology

Schulze, Jenny J JJ; Karypidis, Helena H; Ekström, Lena L

Publication Date: 2012

Variant appearance in text: rs4881400

PubMed Link: 22888320

Variant Present in the following documents:

• Main text
• fphar-03-00151.pdf

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Androgen metabolism and JAK/STAT pathway genes and prostate cancer risk.

Cancer Epidemiology

Kwon, Erika M EM; Holt, Sarah K SK; Fu, Rong R; Kolb, Suzanne S; Williams, Gabrielle G; Stanford, Janet L JL; Ostrander, Elaine A EA

Publication Date: 2012-08

Variant appearance in text: rs4881400

PubMed Link: 22542949

Variant Present in the following documents:

• Main text

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Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.

Carcinogenesis

Figueroa, Jonine D JD; Malats, Núria N; García-Closas, Montserrat M; Real, Francisco X FX; Silverman, Debra D; Kogevinas, Manolis M; Chanock, Stephen S; Welch, Robert R; Dosemeci, Mustafa M; Lan, Qing Q; Tardón, Adonina A; Serra, Consol C; Carrato, Alfredo A; García-Closas, Reina R; Castaño-Vinyals, Gemma G; Rothman, Nathaniel N

Publication Date: 2008-10

Variant appearance in text: rs4881400

PubMed Link: 18632753

Variant Present in the following documents:

• Main text

View BVdb publication page

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