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: rs294778

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: UGT2B10: 718+100G>A; rs294778

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Genome-wide association meta-analysis of nicotine metabolism and cigarette consumption measures in smokers of European descent.

Molecular Psychiatry

Buchwald, Jadwiga J; Chenoweth, Meghan J MJ; Palviainen, Teemu T; Zhu, Gu G; Benner, Christian C; Gordon, Scott S; Korhonen, Tellervo T; Ripatti, Samuli S; Madden, Pamela A F PAF; Lehtimäki, Terho T; Raitakari, Olli T OT; Salomaa, Veikko V; Rose, Richard J RJ; George, Tony P TP; Lerman, Caryn C; Pirinen, Matti M; Martin, Nicholas G NG; Kaprio, Jaakko J; Loukola, Anu A; Tyndale, Rachel F RF

Publication Date: 2021-06

Variant appearance in text: rs294778

PubMed Link: 32157176

Variant Present in the following documents:

• Main text
• nihms-1565522.pdf

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Genome-wide association meta-analysis of nicotine metabolism and cigarette consumption measures in smokers of European descent.

Molecular Psychiatry

Buchwald, Jadwiga J; Chenoweth, Meghan J MJ; Palviainen, Teemu T; Zhu, Gu G; Benner, Christian C; Gordon, Scott S; Korhonen, Tellervo T; Ripatti, Samuli S; Madden, Pamela A F PAF; Lehtimäki, Terho T; Raitakari, Olli T OT; Salomaa, Veikko V; Rose, Richard J RJ; George, Tony P TP; Lerman, Caryn C; Pirinen, Matti M; Martin, Nicholas G NG; Kaprio, Jaakko J; Loukola, Anu A; Tyndale, Rachel F RF

Publication Date: 2021-06

Variant appearance in text: rs294778

PubMed Link: 32157176

Variant Present in the following documents:

• Main text
• nihms-1565522.pdf

View BVdb publication page

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: UGT2B10: 718+100G>A; rs294778

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page