Publications:

Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: rs7973623

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

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Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?

European Journal Of Human Genetics : Ejhg

Ferrari, Luca L; Mangano, Eleonora E; Bonati, Maria Teresa MT; Monterosso, Ilaria I; Capitanio, Daniele D; Chiappori, Federica F; Brambilla, Ilaria I; Gelfi, Cecilia C; Battaglia, Cristina C; Bordoni, Roberta R; Riva, Paola P

Publication Date: 2020-10

Variant appearance in text: rs7973623

PubMed Link: 32514133

Variant Present in the following documents:

• 41431_2020_658_MOESM2_ESM.xlsx, sheet 1

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: rs7973623

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs7973623

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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Extensive sequence variation in the 3' untranslated region of the KRAS gene in lung and ovarian cancer cases.

Cell Cycle (Georgetown, Tex.)

Kim, Minlee M; Chen, Xiaowei X; Chin, Lena J LJ; Paranjape, Trupti T; Speed, William C WC; Kidd, Kenneth K KK; Zhao, Hongyu H; Weidhaas, Joanne B JB; Slack, Frank J FJ

Publication Date: 2014

Variant appearance in text: rs7973623

PubMed Link: 24552817

Variant Present in the following documents:

• Main text

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