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: NOTCH2: 4005+45A>G; rs17258579

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs17258579

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: rs17258579

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

Genome-wide association study identifies novel type II diabetes risk loci in Jordan subpopulations.

Peerj

Dajani, Rana R; Li, Jin J; Wei, Zhi Z; March, Michael E ME; Xia, Qianghua Q; Khader, Yousef Y; Hakooz, Nancy N; Fatahallah, Raja R; El-Khateeb, Mohammed M; Arafat, Ala A; Saleh, Tareq T; Dajani, Abdel Rahman AR; Al-Abbadi, Zaid Z; Abdul Qader, Mohamed M; Shiyab, Abdel Halim AH; Bateiha, Anwar A; Ajlouni, Kamel K; Hakonarson, Hakon H

Publication Date: 2017

Variant appearance in text: rs17258579

PubMed Link: 28828242

Variant Present in the following documents:

• peerj-05-3618-s001.pdf

View BVdb publication page

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

American Journal Of Human Genetics

McDaniell, Ryan R; Warthen, Daniel M DM; Sanchez-Lara, Pedro A PA; Pai, Athma A; Krantz, Ian D ID; Piccoli, David A DA; Spinner, Nancy B NB

Publication Date: 2006-07

Variant appearance in text:

PubMed Link: 16773578

Variant Present in the following documents:

• Main text

View BVdb publication page