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: rs2275860

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 1

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs2275860

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Cardiac troponin T (TNNT2) mutations in chinese dilated cardiomyopathy patients.

Biomed Research International

Li, Xiaoping X; Luo, Rong R; Gu, Haiyong H; Deng, Yun Y; Xu, Xiaolei X; Wu, Xiushan X; Hua, Wei W

Publication Date: 2014

Variant appearance in text: rs2275860

PubMed Link: 25110706

Variant Present in the following documents:

• Main text
• BMRI2014-907360.pdf

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Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy.

Plos One

Campbell, Nzali N; Sinagra, Gianfranco G; Jones, Kenneth L KL; Slavov, Dobromir D; Gowan, Katherine K; Merlo, Marco M; Carniel, Elisa E; Fain, Pamela R PR; Aragona, Pierluigi P; Di Lenarda, Andrea A; Mestroni, Luisa L; Taylor, Matthew R G MR

Publication Date: 2013

Variant appearance in text: rs2275860

PubMed Link: 24205113

Variant Present in the following documents:

• Main text
• pone.0078104.pdf

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