Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs2303439

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs2303439

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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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: TRAF6: 679-112A>G; rs2303439

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: TRAF6: 679-112A>G; rs2303439

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2303439

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Genetic variants of TRAF6 modulate peritoneal immunity and the risk of spontaneous bacterial peritonitis in cirrhosis: A combined prospective-retrospective study.

Scientific Reports

Mai, Martina M; Stengel, Sven S; Al-Herwi, Eihab E; Peter, Jack J; Schmidt, Caroline C; Rubio, Ignacio I; Stallmach, Andreas A; Bruns, Tony T

Publication Date: 2017-07-07

Variant appearance in text: rs2303439

PubMed Link: 28687809

Variant Present in the following documents:

• 41598_2017_Article_4895.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: rs2303439

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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TRAF6 polymorphisms not associated with the susceptibility to and severity of sepsis in a Chinese population.

World Journal Of Emergency Medicine

Fang, Yu Y; Zhang, Lu L; Zhou, Gang-Qiao GQ; Wang, Zhi-Fu ZF; Feng, Kai K; Lou, Zhi-Yi ZY; Pang, Wei W; Li, Lei L; Ling, Yan Y; Li, Yu-Xia YX; Liu, Bao-Chi BC

Publication Date: 2010

Variant appearance in text: rs2303439

PubMed Link: 25214962

Variant Present in the following documents:

• Main text

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Evaluation of TRAF6 in a large multiancestral lupus cohort.

Arthritis And Rheumatism

Namjou, Bahram B; Choi, Chan-Bum CB; Harley, Isaac T W IT; Alarcón-Riquelme, Marta E ME; , ; Kelly, Jennifer A JA; Glenn, Stuart B SB; Ojwang, Joshua O JO; Adler, Adam A; Kim, Kwangwoo K; Gallant, Caroline J CJ; Boackle, Susan A SA; Criswell, Lindsey A LA; Kimberly, Robert P RP; Brown, Elizabeth E EE; Edberg, Jeffrey J; Alarcón, Graciela S GS; Stevens, Anne M AM; Jacob, Chaim O CO; Gilkeson, Gary S GS; Kamen, Diane L DL; Tsao, Betty P BP; Anaya, Juan-Manuel JM; Kim, Eun-Mi EM; Park, So-Yeon SY; Sung, Yoon-Kyoung YK; Guthridge, Joel M JM; Merrill, Joan T JT; Petri, Michelle M; Ramsey-Goldman, Rosalind R; Vilá, Luis M LM; Niewold, Timothy B TB; Martin, Javier J; Pons-Estel, Bernardo A BA; , ; Vyse, Timothy J TJ; Freedman, Barry I BI; Moser, Kathy L KL; Gaffney, Patrick M PM; Williams, Adrienne H AH; Comeau, Mary E ME; Reveille, John D JD; Kang, Changwon C; James, Judith A JA; Scofield, R Hal RH; Langefeld, Carl D CD; Kaufman, Kenneth M KM; Harley, John B JB; Bae, Sang-Cheol SC

Publication Date: 2012-06

Variant appearance in text: rs2303439

PubMed Link: 22231568

Variant Present in the following documents:

• Main text

View BVdb publication page

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