Publications:

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: RET: 74-2864A>G; rs2505535

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Susceptible loci associated with autoimmune disease as potential biomarkers for checkpoint inhibitor-induced immune-related adverse events.

Esmo Open

Hoefsmit, Esmée P EP; Rozeman, Elisa A EA; Haanen, John B A G JBAG; Blank, Christian U CU

Publication Date: 2019

Variant appearance in text: rs2505535

PubMed Link: 31423333

Variant Present in the following documents:

• esmoopen-2018-000472supp001.pdf

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DeFine: deep convolutional neural networks accurately quantify intensities of transcription factor-DNA binding and facilitate evaluation of functional non-coding variants.

Nucleic Acids Research

Wang, Meng M; Tai, Cheng C; E, Weinan W; Wei, Liping L

Publication Date: 2018-06-20

Variant appearance in text: rs2505535

PubMed Link: 29617928

Variant Present in the following documents:

• gky215_supplemental_files.pdf

View BVdb publication page

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Dynamic genetic linkage of intermediate blood pressure phenotypes during postural adaptations in a founder population.

Physiological Genomics

Arenas, I A IA; Tremblay, J J; Deslauriers, B B; Sandoval, J J; Šeda, O O; Gaudet, D D; Merlo, E E; Kotchen, T T; Cowley, A W AW; Hamet, P P

Publication Date: 2013-02-15

Variant appearance in text: rs2505535

PubMed Link: 23269701

Variant Present in the following documents:

• Main text

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Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.

Plos One

Cornes, Belinda K BK; Tang, Clara S CS; Leon, Thomas Y Y TY; Hui, Kenneth J W S KJ; So, Man-Ting MT; Miao, Xiaoping X; Cherny, Stacey S SS; Sham, Pak C PC; Tam, Paul K H PK; Garcia-Barcelo, Maria-Merce MM

Publication Date: 2010-06-02

Variant appearance in text: rs2505535

PubMed Link: 20532249

Variant Present in the following documents:

• Main text
• pone.0010918.pdf

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Identifying candidate Hirschsprung disease-associated RET variants.

American Journal Of Human Genetics

Burzynski, Grzegorz M GM; Nolte, Ilja M IM; Bronda, Agnes A; Bos, Krista K KK; Osinga, Jan J; Plaza Menacho, Ivan I; Twigt, Bas B; Maas, Saskia S; Brooks, Alice S AS; Verheij, Joke B G M JB; Buys, Charles H C M CH; Hofstra, Robert M W RM

Publication Date: 2005-05

Variant appearance in text: rs2505535

PubMed Link: 15759212

Variant Present in the following documents:

• Main text

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