Publications:

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Identification of an iron-responsive subtype in two children diagnosed with relapsing-remitting multiple sclerosis using whole exome sequencing.

Molecular Genetics And Metabolism Reports

van Rensburg, Susan J SJ; Peeters, Armand V AV; van Toorn, Ronald R; Schoeman, Johan J; Moremi, Kelebogile E KE; van Heerden, Carel J CJ; Kotze, Maritha J MJ

Publication Date: 2019-06

Variant appearance in text: rs3736032

PubMed Link: 30963028

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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A high-throughput sequence analysis of Japanese patients revealed 11 candidate genes associated with type 1 autoimmune pancreatitis susceptibility.

Biochemistry And Biophysics Reports

Fujibayashi, Shugo S; Sasajima, Junpei J; Goto, Takuma T; Tanaka, Hiroki H; Kawabata, Hidemasa H; Fujii, Tsuneshi T; Nakamura, Kazumasa K; Chiba, Atsushi A; Yanagawa, Nobuyuki N; Moriichi, Kentaro K; Fujiya, Mikihiro M; Kohgo, Yutaka Y

Publication Date: 2016-07

Variant appearance in text: rs3736032

PubMed Link: 28955865

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: rs3736032

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Deregulation of genes related to iron and mitochondrial metabolism in refractory anemia with ring sideroblasts.

Plos One

del Rey, Mónica M; Benito, Rocío R; Fontanillo, Celia C; Campos-Laborie, Francisco J FJ; Janusz, Kamila K; Velasco-Hernández, Talía T; Abáigar, María M; Hernández, María M; Cuello, Rebeca R; Borrego, Daniel D; Martín-Zanca, Dionisio D; De Las Rivas, Javier J; Mills, Ken I KI; Hernández-Rivas, Jesús M JM

Publication Date: 2015

Variant appearance in text: rs3736032

PubMed Link: 25955609

Variant Present in the following documents:

• Main text
• pone.0126555.pdf

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs3736032

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics

Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO

Publication Date: 2013-03

Variant appearance in text: rs3736032

PubMed Link: 23555315

Variant Present in the following documents:

• pgen.1003419.s009.xlsx, sheet 1

View BVdb publication page

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Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.

Frontiers In Genetics

Pasquale, Louis R LR; Loomis, Stephanie J SJ; Aschard, Hugues H; Kang, Jae H JH; Cornelis, Marilyn C MC; Qi, Lu L; Kraft, Peter P; Hu, Frank B FB

Publication Date: 2013

Variant appearance in text: rs3736032

PubMed Link: 23386860

Variant Present in the following documents:

• Main text
• fgene-04-00007.pdf

View BVdb publication page

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