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: rs3212363

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Detangling red hair from pain: phenotype-specific contributions from different genetic variants in melanocortin-1 receptor.

Pain

Zorina-Lichtenwalter, Katerina K; Maixner, William W; Diatchenko, Luda L

Publication Date: 2020-05

Variant appearance in text: rs3212363

PubMed Link: 31834199

Variant Present in the following documents:

• Main text

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: MC1R: -226A>T; rs3212363

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 Variants and the Cortisol Response in Children: An Exploratory Study.

Biological Research For Nursing

Ersig, Anne L AL; Schutte, Debra L DL; Standley, Jennifer J; Leslie, Elizabeth J EJ; Zimmerman, Bridget B; Hanrahan, Kirsten K; Murray, Jeffrey C JC; McCarthy, Ann Marie AM

Publication Date: 2019-03

Variant appearance in text: rs3212363

PubMed Link: 30700110

Variant Present in the following documents:

• Main text

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: MC1R: -226A>T; rs3212363

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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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: MC1R: -226A>T; rs3212363

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: rs3212363

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Predicting phenotype from genotype: normal pigmentation.

Journal Of Forensic Sciences

Valenzuela, Robert K RK; Henderson, Miquia S MS; Walsh, Monica H MH; Garrison, Nanibaa' A NA; Kelch, Jessica T JT; Cohen-Barak, Orit O; Erickson, Drew T DT; John Meaney, F F; Bruce Walsh, J J; Cheng, Keith C KC; Ito, Shosuke S; Wakamatsu, Kazumasa K; Frudakis, Tony T; Thomas, Matthew M; Brilliant, Murray H MH

Publication Date: 2010-03-01

Variant appearance in text: rs3212363

PubMed Link: 20158590

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interactions between SNP alleles at multiple Loci and variation in skin pigmentation in 122 Caucasians.

Evolutionary Bioinformatics Online

Anno, Sumiko S; Abe, Takashi T; Sairyo, Koichi K; Kudo, Susumu S; Yamamoto, Takushi T; Ogata, Koretsugu K; Goel, Vijay K VK

Publication Date: 2007-09-06

Variant appearance in text: rs3212363

PubMed Link: 19461972

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects.

International Journal Of Biological Sciences

Anno, Sumiko S; Abe, Takashi T; Yamamoto, Takushi T

Publication Date: 2008-03-31

Variant appearance in text: rs3212363

PubMed Link: 18392143

Variant Present in the following documents:

• Main text
• ijbsv04p0081.pdf

View BVdb publication page

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A genomewide association study of skin pigmentation in a South Asian population.

American Journal Of Human Genetics

Stokowski, Renee P RP; Pant, P V Krishna PV; Dadd, Tony T; Fereday, Amelia A; Hinds, David A DA; Jarman, Carl C; Filsell, Wendy W; Ginger, Rebecca S RS; Green, Martin R MR; van der Ouderaa, Frans J FJ; Cox, David R DR

Publication Date: 2007-12

Variant appearance in text: rs3212363

PubMed Link: 17999355

Variant Present in the following documents:

• Main text

View BVdb publication page

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