Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs6462

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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: rs6462

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Genomics, Proteomics & Bioinformatics

Sun, Jing J; Zhang, Yanfang Y; Wang, Minhui M; Guan, Qian Q; Yang, Xiujia X; Ou, Jin Xia JX; Yan, Mingchen M; Wang, Chengrui C; Zhang, Yan Y; Li, Zhi-Hao ZH; Lan, Chunhong C; Mao, Chen C; Zhou, Hong-Wei HW; Hao, Bingtao B; Zhang, Zhenhai Z

Publication Date: 2020-10

Variant appearance in text: CYP21A2: 292+9C>T

PubMed Link: 32827758

Variant Present in the following documents:

• mmc12.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: CYP21A2: 292+9C>T; rs6462

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: rs6462

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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Common genetic variants of the human steroid 21-hydroxylase gene (CYP21A2) are related to differences in circulating hormone levels.

Plos One

Doleschall, Márton M; Szabó, Julianna Anna JA; Pázmándi, Júlia J; Szilágyi, Ágnes Á; Koncz, Klára K; Farkas, Henriette H; Tóth, Miklós M; Igaz, Péter P; Gláz, Edit E; Prohászka, Zoltán Z; Korbonits, Márta M; Rácz, Károly K; Füst, George G; Patócs, Attila A

Publication Date: 2014

Variant appearance in text: rs6462

PubMed Link: 25210767

Variant Present in the following documents:

• Main text
• pone.0107244.pdf

View BVdb publication page

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Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

Peerj

O'Rawe, Jason A JA; Fang, Han H; Rynearson, Shawn S; Robison, Reid R; Kiruluta, Edward S ES; Higgins, Gerald G; Eilbeck, Karen K; Reese, Martin G MG; Lyon, Gholson J GJ

Publication Date: 2013

Variant appearance in text: CYP21A2: 292+9C>T; rs6462

PubMed Link: 24109560

Variant Present in the following documents:

• peerj-01-177-s012.xlsx, sheet 1
• peerj-01-177-s013.xlsx, sheet 1

View BVdb publication page

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Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.

Bmc Medical Genetics

Coeli, Fernanda B FB; Soardi, Fernanda C FC; Bernardi, Renan D RD; de Araújo, Marcela M; Paulino, Luciana C LC; Lau, Ivy F IF; Petroli, Reginaldo J RJ; de Lemos-Marini, Sofia H V SH; Baptista, Maria T M MT; Guerra-Júnior, Gil G; de-Mello, Maricilda P MP

Publication Date: 2010-06-29

Variant appearance in text: rs6462

PubMed Link: 20587039

Variant Present in the following documents:

• Main text
• 1471-2350-11-104.pdf

View BVdb publication page

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