SOX5 c.482-37488G>A

Variant ID: 12-23946146-C-T

NM_006940.4(SOX5):c.482-37488G>A

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: rs11047102
PubMed Link: 36158696
Variant Present in the following documents:
  • Main text
  • fonc-12-956552.pdf
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Genetics, Epigenetics, and Genomics of Systemic Sclerosis.

Rheumatic Diseases Clinics Of North America
Salazar, Gloria G; Mayes, Maureen D MD
Publication Date: 2015-08

Variant appearance in text: rs11047102
PubMed Link: 26210123
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recent advances in the genetics of systemic sclerosis: toward biological and clinical significance.

Current Rheumatology Reports
Korman, Benjamin D BD; Criswell, Lindsey A LA
Publication Date: 2015-03

Variant appearance in text: rs11047102
PubMed Link: 25777745
Variant Present in the following documents:
  • Main text
  • 11926_2014_Article_484.pdf
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Systemic Sclerosis is a Complex Disease Associated Mainly with Immune Regulatory and Inflammatory Genes.

The Open Rheumatology Journal
Jin, Jingxiao J; Chou, Chou C; Lima, Maria M; Zhou, Danielle D; Zhou, Xiaodong X
Publication Date: 2014

Variant appearance in text: rs11047102
PubMed Link: 25328554
Variant Present in the following documents:
  • Main text
  • TORJ-8-29.pdf
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Genetics of systemic sclerosis: an update.

Current Rheumatology Reports
Broen, Jasper C A JC; Coenen, Marieke J H MJ; Radstake, Timothy R D J TR
Publication Date: 2012-02

Variant appearance in text: rs11047102
PubMed Link: 22102179
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.

Plos Genetics
Gorlova, Olga O; Martin, Jose-Ezequiel JE; Rueda, Blanca B; Koeleman, Bobby P C BP; Ying, Jun J; Teruel, Maria M; Diaz-Gallo, Lina-Marcela LM; Broen, Jasper C JC; Vonk, Madelon C MC; Simeon, Carmen P CP; Alizadeh, Behrooz Z BZ; Coenen, Marieke J H MJ; Voskuyl, Alexandre E AE; Schuerwegh, Annemie J AJ; van Riel, Piet L C M PL; Vanthuyne, Marie M; van 't Slot, Ruben R; Italiaander, Annet A; Ophoff, Roel A RA; Hunzelmann, Nicolas N; Fonollosa, Vicente V; Ortego-Centeno, Norberto N; González-Gay, Miguel A MA; García-Hernández, Francisco J FJ; González-Escribano, María F MF; Airo, Paolo P; van Laar, Jacob J; Worthington, Jane J; Hesselstrand, Roger R; Smith, Vanessa V; de Keyser, Filip F; Houssiau, Fredric F; Chee, Meng May MM; Madhok, Rajan R; Shiels, Paul G PG; Westhovens, Rene R; Kreuter, Alexander A; de Baere, Elfride E; Witte, Torsten T; Padyukov, Leonid L; Nordin, Annika A; Scorza, Raffaella R; Lunardi, Claudio C; Lie, Benedicte A BA; Hoffmann-Vold, Anna-Maria AM; Palm, Oyvind O; García de la Peña, Paloma P; Carreira, Patricia P; , ; Varga, John J; Hinchcliff, Monique M; Lee, Annette T AT; Gourh, Pravitt P; Amos, Christopher I CI; Wigley, Frederick M FM; Hummers, Laura K LK; Nelson, J Lee JL; Riemekasten, Gabriella G; Herrick, Ariane A; Beretta, Lorenzo L; Fonseca, Carmen C; Denton, Christopher P CP; Gregersen, Peter K PK; Agarwal, Sandeep S; Assassi, Shervin S; Tan, Filemon K FK; Arnett, Frank C FC; Radstake, Timothy R D J TR; Mayes, Maureen D MD; Martin, Javier J
Publication Date: 2011-07

Variant appearance in text: rs11047102
PubMed Link: 21779181
Variant Present in the following documents:
  • Main text
  • pgen.1002178.pdf
View BVdb publication page