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: ABCB11: 2343+127T>C; rs853773

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.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: ABCB11: 2343+127T>C; rs853773

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Fast and Accurate Genome-Wide Association Test of Multiple Quantitative Traits.

Computational And Mathematical Methods In Medicine

Wu, Baolin B; Pankow, James S JS

Publication Date: 2018

Variant appearance in text: rs853773

PubMed Link: 29743933

Variant Present in the following documents:

• 2564531.f1.pdf

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs853773

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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A comprehensive analysis of common genetic variation around six candidate loci for intrahepatic cholestasis of pregnancy.

The American Journal Of Gastroenterology

Dixon, Peter H PH; Wadsworth, Christopher A CA; Chambers, Jennifer J; Donnelly, Jennifer J; Cooley, Sharon S; Buckley, Rebecca R; Mannino, Ramona R; Jarvis, Sheba S; Syngelaki, Argyro A; Geenes, Victoria V; Paul, Priyadarshini P; Sothinathan, Meera M; Kubitz, Ralf R; Lammert, Frank F; Tribe, Rachel M RM; Ch'ng, Chin Lye CL; Marschall, Hanns-Ulrich HU; Glantz, Anna A; Khan, Shahid A SA; Nicolaides, Kypros K; Whittaker, John J; Geary, Michael M; Williamson, Catherine C

Publication Date: 2014-01

Variant appearance in text: rs853773

PubMed Link: 24366234

Variant Present in the following documents:

• ajg2013406a.pdf

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Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.

Plos Genetics

Smith, Erin N EN; Chen, Wei W; Kähönen, Mika M; Kettunen, Johannes J; Lehtimäki, Terho T; Peltonen, Leena L; Raitakari, Olli T OT; Salem, Rany M RM; Schork, Nicholas J NJ; Shaw, Marian M; Srinivasan, Sathanur R SR; Topol, Eric J EJ; Viikari, Jorma S JS; Berenson, Gerald S GS; Murray, Sarah S SS

Publication Date: 2010-09-09

Variant appearance in text: rs853773

PubMed Link: 20838585

Variant Present in the following documents:

• Main text
• pgen.1001094.pdf

View BVdb publication page

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