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: rs2516734

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: rs2516734

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

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Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.

Bmc Medical Genetics

Nellist, Mark M; Brouwer, Rutger W W RW; Kockx, Christel E M CE; van Veghel-Plandsoen, Monique M; Withagen-Hermans, Caroline C; Prins-Bakker, Lida L; Hoogeveen-Westerveld, Marianne M; Mrsic, Alan A; van den Berg, Mike M P MM; Koopmans, Anna E AE; de Wit, Marie-Claire MC; Jansen, Floor E FE; Maat-Kievit, Anneke J A AJ; van den Ouweland, Ans A; Halley, Dicky D; de Klein, Annelies A; van IJcken, Wilfred F J WF

Publication Date: 2015-02-25

Variant appearance in text: rs2516734

PubMed Link: 25927202

Variant Present in the following documents:

• Main text
• 12881_2015_Article_155.pdf

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Genetic variation in base excision repair pathway genes, pesticide exposure, and prostate cancer risk.

Environmental Health Perspectives

Barry, Kathryn Hughes KH; Koutros, Stella S; Berndt, Sonja I SI; Andreotti, Gabriella G; Hoppin, Jane A JA; Sandler, Dale P DP; Burdette, Laurie A LA; Yeager, Meredith M; Freeman, Laura E Beane LE; Lubin, Jay H JH; Ma, Xiaomei X; Zheng, Tongzhang T; Alavanja, Michael C R MC

Publication Date: 2011-12

Variant appearance in text: rs2516734

PubMed Link: 21810555

Variant Present in the following documents:

• ehp.1103454.s001.pdf

View BVdb publication page