Publications:

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Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Frontiers In Endocrinology

Saho, Robert R; Dolzan, Vita V; Zerjav Tansek, Mojca M; Pastorakova, Andrea A; Petrovic, Robert R; Knapkova, Maria M; Trebusak Podkrajsek, Katarina K; Suput Omladic, Jasna J; Bertok, Sara S; Avbelj Stefanija, Magdalena M; Kotnik, Primoz P; Battelino, Tadej T; Pribilincova, Zuzana Z; Groselj, Urh U

Publication Date: 2023

Variant appearance in text: CYP21A2: Arg409Cys

PubMed Link: 37008950

Variant Present in the following documents:

• Main text
• fendo-14-1134133.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: CYP21A2: 1225C>T

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.

Npj Genomic Medicine

Hu, Ping P; Tan, Jianxin J; Yu, Feng F; Shao, Binbin B; Zhang, Fang F; Zhang, Jingjing J; Lin, Yingchun Y; Tao, Tao T; Jiang, Lili L; Jiang, Zhengwen Z; Xu, Zhengfeng Z

Publication Date: 2022-01-25

Variant appearance in text: CYP21A2: 1225C>T

PubMed Link: 35079019

Variant Present in the following documents:

• 41525_2021_280_MOESM1_ESM.pdf

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: rs72552757

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: N/A

PubMed Link: 34078906

Variant Present in the following documents:

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EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.

European Journal Of Human Genetics : Ejhg

Baumgartner-Parzer, Sabina S; Witsch-Baumgartner, Martina M; Hoeppner, Wolfgang W

Publication Date: 2020-10

Variant appearance in text: CYP21A2: 1225C>T; Arg409Cys; rs72552757

PubMed Link: 32616876

Variant Present in the following documents:

• Main text
• 41431_2020_Article_653.pdf

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An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

The Pharmacogenomics Journal

Zhou, Yitian Y; Mkrtchian, Souren S; Kumondai, Masaki M; Hiratsuka, Masahiro M; Lauschke, Volker M VM

Publication Date: 2019-04

Variant appearance in text: CYP21A2: R409C; rs72552757

PubMed Link: 30206299

Variant Present in the following documents:

• 41397_2018_44_MOESM5_ESM.xlsx, sheet 1

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Functional analysis of human cytochrome P450 21A2 variants involved in congenital adrenal hyperplasia.

The Journal Of Biological Chemistry

Wang, Chunxue C; Pallan, Pradeep S PS; Zhang, Wei W; Lei, Li L; Yoshimoto, Francis K FK; Waterman, Michael R MR; Egli, Martin M; Guengerich, F Peter FP

Publication Date: 2017-06-30

Variant appearance in text: CYP21A2: R409C

PubMed Link: 28539365

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human Cytochrome P450 21A2, the Major Steroid 21-Hydroxylase: STRUCTURE OF THE ENZYME·PROGESTERONE SUBSTRATE COMPLEX AND RATE-LIMITING C-H BOND CLEAVAGE.

The Journal Of Biological Chemistry

Pallan, Pradeep S PS; Wang, Chunxue C; Lei, Li L; Yoshimoto, Francis K FK; Auchus, Richard J RJ; Waterman, Michael R MR; Guengerich, F Peter FP; Egli, Martin M

Publication Date: 2015-05-22

Variant appearance in text: CYP21: R409C

PubMed Link: 25855791

Variant Present in the following documents:

• Main text

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs72552757

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs72552757

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

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