Publications:

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Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.

Frontiers In Genetics

Wang, Jun J; Gou, Xingqing X; Wang, Xiyi X; Zhang, Jing J; Zhao, Nan N; Wang, Xiaohong X

Publication Date: 2022

Variant appearance in text: PC: 35G>A; R12Q

PubMed Link: 36386804

Variant Present in the following documents:

• Table1.xls, sheet 3

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A novel xenonucleic acid-mediated molecular clamping technology for early colorectal cancer screening.

Plos One

Sun, Qing Q; Pastor, Larry L; Du, Jinwei J; Powell, Michael J MJ; Zhang, Aiguo A; Bodmer, Walter W; Wu, Jianzhong J; Zheng, Shu S; Sha, Michael Y MY

Publication Date: 2021

Variant appearance in text: PC: 35G>A

PubMed Link: 34610014

Variant Present in the following documents:

• pone.0244332.pdf

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Pharmacologic modulation of 5-fluorouracil by folinic acid and high-dose pyridoxine for treatment of patients with digestive tract carcinomas.

Scientific Reports

Machover, David D; Almohamad, Wathek W; Castagné, Vincent V; Desterke, Christophe C; Gomez, Léa L; Gaston-Mathé, Yann Y; Boucheix, Claude C; Goldschmidt, Emma E

Publication Date: 2021-06-16

Variant appearance in text: PC: 35G>A

PubMed Link: 34135415

Variant Present in the following documents:

• Main text
• 41598_2021_Article_92110.pdf

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PALLD mutation in a European family conveys a stromal predisposition for familial pancreatic cancer.

Jci Insight

Liotta, Lucia L; Lange, Sebastian S; Maurer, H Carlo HC; Olive, Kenneth P KP; Braren, Rickmer R; Pfarr, Nicole N; Burger, Sebastian S; Muckenhuber, Alexander A; Jesinghaus, Moritz M; Steiger, Katja K; Weichert, Wilko W; Friess, Helmut H; Schmid, Roland R; Algül, Hana H; Jost, Philipp J PJ; Ramser, Juliane J; Fischer, Christine C; Quante, Anne S AS; Reichert, Maximilian M; Quante, Michael M

Publication Date: 2021-03-25

Variant appearance in text: PC: 35G>A

PubMed Link: 33764904

Variant Present in the following documents:

• jciinsight-6-141532.pdf

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Membrane-Active Properties of an Amphitropic Peptide from the CyaA Toxin Translocation Region.

Toxins

Voegele, Alexis A; Subrini, Orso O; Sapay, Nicolas N; Ladant, Daniel D; Chenal, Alexandre A

Publication Date: 2017-11-14

Variant appearance in text: PC: R12K

PubMed Link: 29135925

Variant Present in the following documents:

• Main text
• toxins-09-00369.pdf

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Abstracts from the 37th Congress of the Société Internationale d'Urologie, Centro de Congressos de Lisboa, October 19-22, 2017.

World Journal Of Urology

Publication Date: 2017-10

Variant appearance in text: PC: 35G>A

PubMed Link: 29051965

Variant Present in the following documents:

• 345_2017_Article_2090.pdf

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A U1 snRNP-specific assembly pathway reveals the SMN complex as a versatile hub for RNP exchange.

Nature Structural & Molecular Biology

So, Byung Ran BR; Wan, Lili L; Zhang, Zhenxi Z; Li, Pilong P; Babiash, Eric E; Duan, Jingqi J; Younis, Ihab I; Dreyfuss, Gideon G

Publication Date: 2016-03

Variant appearance in text: PC: R12K

PubMed Link: 26828962

Variant Present in the following documents:

• NIHMS771418-supplement-3.pdf

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Rs488087 single nucleotide polymorphism as predictive risk factor for pancreatic cancers.

Oncotarget

Martinez, Emmanuelle E; Silvy, Françoise F; Fina, Fréderic F; Bartoli, Marc M; Krahn, Martin M; Barlesi, Fabrice F; Figarella-Branger, Dominique D; Iovanna, Juan J; Laugier, René R; Ouaissi, Mehdi M; Lombardo, Dominique D; Mas, Eric E

Publication Date: 2015-11-24

Variant appearance in text: PC: 35G>A

PubMed Link: 26498142

Variant Present in the following documents:

• Main text

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