Publications:

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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: rs2235330

PubMed Link: 36075891

Variant Present in the following documents:

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

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: rs2235330

PubMed Link: 33791233

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: IL2RB: 89-38A>G; rs2235330

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Genetic variation in IL18R1 and IL18 genes and Inteferon γ ELISPOT response to smallpox vaccination: an unexpected relationship.

The Journal Of Infectious Diseases

Ovsyannikova, Inna G IG; Haralambieva, Iana H IH; Kennedy, Richard B RB; O'Byrne, Megan M MM; Pankratz, V Shane VS; Poland, Gregory A GA

Publication Date: 2013-11-01

Variant appearance in text: rs2235330

PubMed Link: 23901078

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multistage analysis of variants in the inflammation pathway and lung cancer risk in smokers.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Spitz, Margaret R MR; Gorlov, Ivan P IP; Dong, Qiong Q; Wu, Xifeng X; Chen, Wei W; Chang, David W DW; Etzel, Carol J CJ; Caporaso, Neil E NE; Zhao, Yang Y; Christiani, David C DC; Brennan, Paul P; Albanes, Demetrius D; Shi, Jianxin J; Thun, Michael M; Landi, Maria Teresa MT; Amos, Christopher I CI

Publication Date: 2012-07

Variant appearance in text: rs2235330

PubMed Link: 22573796

Variant Present in the following documents:

• Main text

View BVdb publication page

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Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions.

The Journal Of Experimental Medicine

Fumagalli, Matteo M; Pozzoli, Uberto U; Cagliani, Rachele R; Comi, Giacomo P GP; Riva, Stefania S; Clerici, Mario M; Bresolin, Nereo N; Sironi, Manuela M

Publication Date: 2009-06-08

Variant appearance in text: rs2235330

PubMed Link: 19468064

Variant Present in the following documents:

• Main text
• JEM_20082779.pdf

View BVdb publication page

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