Publications:

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Exome sequencing link mutation in RGPD4 with systemic sclerosis-associated interstitial lung disease and the low level of testosterone-an exploration study.

Frontiers In Oncology

Wang, Na N; Zhang, Qian Q; Sun, Wei W; Yang, Xiaoyu X; Huang, Hui H; Xu, Zuojun Z

Publication Date: 2022

Variant appearance in text: rs2066479

PubMed Link: 36158696

Variant Present in the following documents:

• Main text
• fonc-12-956552.pdf

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Single Nucleotide Polymorphisms of IL-33 Gene Correlated with Renal Allograft Fibrosis in Kidney Transplant Recipients.

Journal Of Immunology Research

Liu, Xuzhong X; Liu, Kun K; Gui, Zeping Z; Feng, Dengyuan D; Wang, Zijie Z; Zheng, Ming M; Fei, Shuang S; Chen, Hao H; Sun, Li L; Han, Zhijian Z; Ju, Xiaobing X; Zhang, Hengcheng H; Tan, Ruoyun R; Gu, Min M

Publication Date: 2021

Variant appearance in text: rs2066479

PubMed Link: 34950738

Variant Present in the following documents:

• JIR2021-8029180.pdf

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Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis.

Bmc Medical Genomics

Heng, Anna Hwee Sing AHS; Say, Yee-How YH; Sio, Yang Yie YY; Ng, Yu Ting YT; Chew, Fook Tim FT

Publication Date: 2021-04-13

Variant appearance in text: HSD17B3: Gly289Cys; rs2066479

PubMed Link: 33849530

Variant Present in the following documents:

• Main text
• 12920_2021_Article_953.pdf

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs2066479

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Etiology of Hypospadias: A Comparative Review of Genetic Factors and Developmental Processes Between Human and Animal Models.

Research And Reports In Urology

Chang, Jun J; Wang, Shanshan S; Zheng, Zhengui Z

Publication Date: 2020

Variant appearance in text: rs2066479

PubMed Link: 33381468

Variant Present in the following documents:

• Main text
• rru-12-673.pdf

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The Genetic Background of Endometriosis: Can ESR2 and CYP19A1 Genes Be a Potential Risk Factor for Its Development?

International Journal Of Molecular Sciences

Smolarz, Beata B; Szyłło, Krzysztof K; Romanowicz, Hanna H

Publication Date: 2020-11-03

Variant appearance in text: rs2066479

PubMed Link: 33153202

Variant Present in the following documents:

• Main text
• ijms-21-08235.pdf

View BVdb publication page

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Relation between sex hormones and leucocyte telomere length in men with idiopathic pulmonary fibrosis.

Respirology (Carlton, Vic.)

Fang, Chuling C; Huang, Hui H; Zhang, Qian Q; Wang, Na N; Jing, Xiaoyan X; Guo, Jian J; Ferianc, Martin M; Xu, Zuojun Z

Publication Date: 2020-12

Variant appearance in text: rs2066479

PubMed Link: 32583532

Variant Present in the following documents:

• Main text
• RESP-25-1265.pdf

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Epidemiologic Factors Associated with Endometriosis in East Asia.

Gynecology And Minimally Invasive Therapy

Yen, Chih-Feng CF; Kim, Mee-Ran MR; Lee, Chyi-Long CL

Publication Date: 2019

Variant appearance in text: rs2066479

PubMed Link: 30783582

Variant Present in the following documents:

• GMIT-8-4.pdf

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Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.

Molecular Genetics & Genomic Medicine

Sproll, Patrick P; Eid, Wassim W; Gomes, Camila R CR; Mendonca, Berenice B BB; Gomes, Nathalia L NL; Costa, Elaine M-F EM; Biason-Lauber, Anna A

Publication Date: 2018-09

Variant appearance in text: rs2066479

PubMed Link: 29998616

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update.

World Journal Of Gastroenterology

Sharma, Aarti A; Sharma, Kiran Lata KL; Gupta, Annapurna A; Yadav, Alka A; Kumar, Ashok A

Publication Date: 2017-06-14

Variant appearance in text: rs2066479

PubMed Link: 28652652

Variant Present in the following documents:

• WJG-23-3978.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: rs2066479

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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The Genetic and Environmental Factors Underlying Hypospadias.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, And Pathology Of Sex Determination And Differentiation

Bouty, Aurore A; Ayers, Katie L KL; Pask, Andrew A; Heloury, Yves Y; Sinclair, Andrew H AH

Publication Date: 2015

Variant appearance in text: rs2066479

PubMed Link: 26613581

Variant Present in the following documents:

• Main text

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: HSD17B3: G289C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Hypospadias and variants in genes related to sex hormone biosynthesis and metabolism.

Andrology

Carmichael, S L SL; Witte, J S JS; Ma, C C; Lammer, E J EJ; Shaw, G M GM

Publication Date: 2014-01

Variant appearance in text: rs2066479

PubMed Link: 24281767

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional analyses of endometriosis-related polymorphisms in the estrogen synthesis and metabolism-related genes.

Plos One

Wang, Hsin-Shih HS; Wu, Hsien-Ming HM; Cheng, Bi-Hwa BH; Yen, Chih-Feng CF; Chang, Pi-Yueh PY; Chao, Angel A; Lee, Yun-Shien YS; Huang, Hsien-Da HD; Wang, Tzu-Hao TH

Publication Date: 2012

Variant appearance in text: rs2066479

PubMed Link: 23139742

Variant Present in the following documents:

• Main text
• pone.0047374.pdf

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Environmental and genetic contributors to hypospadias: a review of the epidemiologic evidence.

Birth Defects Research. Part A, Clinical And Molecular Teratology

Carmichael, Suzan L SL; Shaw, Gary M GM; Lammer, Edward J EJ

Publication Date: 2012-07

Variant appearance in text: rs2066479

PubMed Link: 22678668

Variant Present in the following documents:

• Main text

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