Publications:

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs6824258

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: BBS7: 934+32A>G; rs6824258

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.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: BBS7: 934+32A>G; rs6824258

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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: rs6824258

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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Insights from GWAS: emerging landscape of mechanisms underlying complex trait disease.

Bmc Genomics

Pal, Lipika R LR; Yu, Chen-Hsin CH; Mount, Stephen M SM; Moult, John J

Publication Date: 2015

Variant appearance in text: rs6824258

PubMed Link: 26110739

Variant Present in the following documents:

• 1471-2164-16-S8-S4-S1.pdf

View BVdb publication page

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Synthesizing genome-wide association studies and expression microarray reveals novel genes that act in the human growth plate to modulate height.

Human Molecular Genetics

Lui, Julian C JC; Nilsson, Ola O; Chan, Yingleong Y; Palmer, Cameron D CD; Andrade, Anenisia C AC; Hirschhorn, Joel N JN; Baron, Jeffrey J

Publication Date: 2012-12-01

Variant appearance in text: rs6824258

PubMed Link: 22914739

Variant Present in the following documents:

• Main text

View BVdb publication page

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In search of triallelism in Bardet-Biedl syndrome.

European Journal Of Human Genetics : Ejhg

Abu-Safieh, Leen L; Al-Anazi, Shamsa S; Al-Abdi, Lama L; Hashem, Mais M; Alkuraya, Hisham H; Alamr, Mushari M; Sirelkhatim, Mugtaba O MO; Al-Hassnan, Zuhair Z; Alkuraya, Basim B; Mohamed, Jawahir Y JY; Al-Salem, Ahmad A; Alrashed, May M; Faqeih, Eissa E; Softah, Ameen A; Al-Hashem, Amal A; Wali, Sami S; Rahbeeni, Zuhair Z; Alsayed, Moeen M; Khan, Arif O AO; Al-Gazali, Lihadh L; Taschner, Peter E M PE; Al-Hazzaa, Selwa S; Alkuraya, Fowzan S FS

Publication Date: 2012-04

Variant appearance in text: BBS7: 934+32A>G

PubMed Link: 22353939

Variant Present in the following documents:

• Main text

View BVdb publication page

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