Publications:

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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: rs1473420

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Similarity-driven multi-view embeddings from high-dimensional biomedical data.

Nature Computational Science

Avants, Brian B BB; Tustison, Nicholas J NJ; Stone, James R JR

Publication Date: 2021-02

Variant appearance in text: rs1473420

PubMed Link: 33796865

Variant Present in the following documents:

• NIHMS1664982-supplement-1.pdf

View BVdb publication page

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Pedigree-Based Gene Mapping Supports Previous Loci and Reveals Novel Suggestive Loci in Specific Language Impairment.

Journal Of Speech, Language, And Hearing Research : Jslhr

Andres, Erin M EM; Earnest, Kathleen Kelsey KK; Smith, Shelley D SD; Rice, Mabel L ML; Raza, Muhammad Hashim MH

Publication Date: 2020-12-14

Variant appearance in text: rs1473420

PubMed Link: 33186502

Variant Present in the following documents:

• JSLHR-63-4046-s003.pdf

View BVdb publication page

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Pedigree-Based Gene Mapping Supports Previous Loci and Reveals Novel Suggestive Loci in Specific Language Impairment.

Journal Of Speech, Language, And Hearing Research : Jslhr

Andres, Erin M EM; Earnest, Kathleen Kelsey KK; Smith, Shelley D SD; Rice, Mabel L ML; Raza, Muhammad Hashim MH

Publication Date: 2020-12-14

Variant appearance in text: rs1473420

PubMed Link: 33186502

Variant Present in the following documents:

• JSLHR-63-4046-s003.pdf

View BVdb publication page

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs1473420

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

View BVdb publication page

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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: RERE: 629-208A>C; rs1473420

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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The EPHA2 gene is associated with cataracts linked to chromosome 1p.

Molecular Vision

Shiels, Alan A; Bennett, Thomas M TM; Knopf, Harry L S HL; Maraini, Giovanni G; Li, Anren A; Jiao, Xiaodong X; Hejtmancik, J Fielding JF

Publication Date: 2008

Variant appearance in text: rs1473420

PubMed Link: 19005574

Variant Present in the following documents:

• Main text
• mv-v14-2042.pdf

View BVdb publication page

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