Publications:

Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: VLDLR: 1312+119C>G; rs2290465

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 1
• CNR2-4-e1335-s003.xlsx, sheet 2

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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: VLDLR: 1312+119C>G; rs2290465

PubMed Link: 30319441

Variant Present in the following documents:

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

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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: rs2290465

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Copy number variation of age-related macular degeneration relevant genes in the Korean population.

Plos One

Park, Jung Hyun JH; Lee, Seungbok S; Yu, Hyeong Gon HG; Kim, Jong-Il JI; Seo, Jeong-Sun JS

Publication Date: 2012

Variant appearance in text: rs2290465

PubMed Link: 22355348

Variant Present in the following documents:

• Main text

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Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.

Human Molecular Genetics

Yu, Yi Y; Bhangale, Tushar R TR; Fagerness, Jesen J; Ripke, Stephan S; Thorleifsson, Gudmar G; Tan, Perciliz L PL; Souied, Eric H EH; Richardson, Andrea J AJ; Merriam, Joanna E JE; Buitendijk, Gabriëlle H S GH; Reynolds, Robyn R; Raychaudhuri, Soumya S; Chin, Kimberly A KA; Sobrin, Lucia L; Evangelou, Evangelos E; Lee, Phil H PH; Lee, Aaron Y AY; Leveziel, Nicolas N; Zack, Donald J DJ; Campochiaro, Betsy B; Campochiaro, Peter P; Smith, R Theodore RT; Barile, Gaetano R GR; Guymer, Robyn H RH; Hogg, Ruth R; Chakravarthy, Usha U; Robman, Luba D LD; Gustafsson, Omar O; Sigurdsson, Haraldur H; Ortmann, Ward W; Behrens, Timothy W TW; Stefansson, Kari K; Uitterlinden, André G AG; van Duijn, Cornelia M CM; Vingerling, Johannes R JR; Klaver, Caroline C W CC; Allikmets, Rando R; Brantley, Milam A MA; Baird, Paul N PN; Katsanis, Nicholas N; Thorsteinsdottir, Unnur U; Ioannidis, John P A JP; Daly, Mark J MJ; Graham, Robert R RR; Seddon, Johanna M JM

Publication Date: 2011-09-15

Variant appearance in text: rs2290465

PubMed Link: 21665990

Variant Present in the following documents:

View BVdb publication page