Publications:

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: rs206847

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Association between Serum Urate and Risk of Hypertension in Menopausal Women with XDH Gene.

Journal Of Clinical Medicine

Lee, Jong-Han JH; Go, Tae Hwa TH; Lee, San-Hui SH; Kim, Juwon J; Huh, Ji Hye JH; Kim, Jang Young JY; Kang, Dae Ryong DR; Jeong, Seongmun S; Koh, Sang-Baek SB; Choi, Jung Ran JR

Publication Date: 2019-05-23

Variant appearance in text: rs206847

PubMed Link: 31126092

Variant Present in the following documents:

• Main text
• jcm-08-00738.pdf

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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: XDH: 496-206A>G; rs206847

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.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: rs206847

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

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Dynamic genetic linkage of intermediate blood pressure phenotypes during postural adaptations in a founder population.

Physiological Genomics

Arenas, I A IA; Tremblay, J J; Deslauriers, B B; Sandoval, J J; Šeda, O O; Gaudet, D D; Merlo, E E; Kotchen, T T; Cowley, A W AW; Hamet, P P

Publication Date: 2013-02-15

Variant appearance in text: rs206847

PubMed Link: 23269701

Variant Present in the following documents:

• Main text

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