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: rs3212369

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: rs3212369

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, 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: rs3212369

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: rs3212369

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: rs3212369

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs3212369

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4
• oncotarget-08-95841-s002.xlsx, sheet 1

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Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development.

The Journal Of Investigative Dermatology

Kinsler, Veronica A VA; Abu-Amero, Sayeda S; Budd, Peter P; Jackson, Ian J IJ; Ring, Susan M SM; Northstone, Kate K; Atherton, David J DJ; Bulstrode, Neil W NW; Stanier, Philip P; Hennekam, Raoul C RC; Sebire, Neil J NJ; Moore, Gudrun E GE; Healy, Eugene E

Publication Date: 2012-08

Variant appearance in text: rs3212369

PubMed Link: 22572819

Variant Present in the following documents:

• Main text
• jid201295a.pdf

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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: rs3212369

PubMed Link: 17999355

Variant Present in the following documents:

• Main text

View BVdb publication page

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