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: rs34839

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics

Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS

Publication Date: 2021-07

Variant appearance in text: rs34839

PubMed Link: 34127860

Variant Present in the following documents:

• EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14

View BVdb publication page

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Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics

Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS

Publication Date: 2021-07

Variant appearance in text: rs34839

PubMed Link: 34127860

Variant Present in the following documents:

• EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14

View BVdb publication page

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs34839

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

View BVdb publication page

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FUS P525L mutation causing amyotrophic lateral sclerosis and movement disorders.

Brain And Behavior

Zhou, Binbin B; Wang, Huan H; Cai, Yu Y; Wen, Han H; Wang, Lulu L; Zhu, Min M; Chen, Yunqing Y; Yu, Yanyan Y; Lu, Xi X; Zhou, Meihong M; Fang, Pu P; Li, Xiaobing X; Hong, Daojun D

Publication Date: 2020-06

Variant appearance in text: CLN3: 1057-148A>G; rs34839

PubMed Link: 32307925

Variant Present in the following documents:

• BRB3-10-e01625-s001.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: CLN3: 1057-148A>G; rs34839

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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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs34839

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Genome-wide association analysis implicates elastic microfibrils in the development of nonsyndromic striae distensae.

The Journal Of Investigative Dermatology

Tung, Joyce Y JY; Kiefer, Amy K AK; Mullins, Meghan M; Francke, Uta U; Eriksson, Nicholas N

Publication Date: 2013-11

Variant appearance in text: rs34839

PubMed Link: 23633020

Variant Present in the following documents:

• jid2013196x1.pdf

View BVdb publication page

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