Publications:

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HLA and Non-HLA gene polymorphisms in autoimmune hepatitis patients of North Indian adults.

Frontiers In Immunology

Ahuja, Nishtha N; Singh, Jagdeep J; Minz, Ranjana Walker RW; Anand, Shashi S; Das, Ashim A; Taneja, Sunil S

Publication Date: 2022

Variant appearance in text: rs1217412

PubMed Link: 36741403

Variant Present in the following documents:

• Main text
• fimmu-13-984083.pdf

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs1217412

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Genetic Polymorphism of PTPN22 in Autoimmune Diseases: A Comprehensive Review.

Medicina (Kaunas, Lithuania)

Tizaoui, Kalthoum K; Shin, Jae Il JI; Jeong, Gwang Hun GH; Yang, Jae Won JW; Park, Seoyeon S; Kim, Ji Hong JH; Hwang, Soo Young SY; Park, Se Jin SJ; Koyanagi, Ai A; Smith, Lee L

Publication Date: 2022-08-02

Variant appearance in text: rs1217412

PubMed Link: 36013501

Variant Present in the following documents:

• Main text
• medicina-58-01034.pdf

View BVdb publication page

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Genetic risk factors for autoimmune hepatitis: implications for phenotypic heterogeneity and biomarkers for drug response.

Human Genomics

Higuchi, Takashi T; Oka, Shomi S; Furukawa, Hiroshi H; Tohma, Shigeto S; Yatsuhashi, Hiroshi H; Migita, Kiyoshi K

Publication Date: 2021-01-28

Variant appearance in text: rs1217412

PubMed Link: 33509297

Variant Present in the following documents:

• Main text
• 40246_2020_Article_301.pdf

View BVdb publication page

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs1217412

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: rs1217412

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: rs1217412

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs1217412

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

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Genetic Association of PTPN22 Polymorphisms with Autoimmune Hepatitis and Primary Biliary Cholangitis in Japan.

Scientific Reports

Umemura, Takeji T; Joshita, Satoru S; Yamazaki, Tomoo T; Komatsu, Michiharu M; Katsuyama, Yoshihiko Y; Yoshizawa, Kaname K; Tanaka, Eiji E; Ota, Masao M

Publication Date: 2016-07-11

Variant appearance in text: rs1217412

PubMed Link: 27406031

Variant Present in the following documents:

• Main text
• srep29770.pdf

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: rs1217412

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Genome-wide association study combined with biological context can reveal more disease-related SNPs altering microRNA target seed sites.

Bmc Genomics

Wu, Di D; Yang, Gang G; Zhang, Lifang L; Xue, Jiwei J; Wen, Zhining Z; Li, Menglong M

Publication Date: 2014-08-08

Variant appearance in text: rs1217412

PubMed Link: 25106527

Variant Present in the following documents:

• Main text
• 12864_2014_Article_6678.pdf

View BVdb publication page

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Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations.

Arthritis And Rheumatism

Lee, Hye-Soon HS; Korman, Benjamin D BD; Le, Julie M JM; Kastner, Daniel L DL; Remmers, Elaine F EF; Gregersen, Peter K PK; Bae, Sang-Cheol SC

Publication Date: 2009-02

Variant appearance in text: rs1217412

PubMed Link: 19180477

Variant Present in the following documents:

• Main text

View BVdb publication page

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