Publications:

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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: PRRC2A: 112+220C>T; rs2736172

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2736172

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Alternate-locus aware variant calling in whole genome sequencing.

Genome Medicine

Jäger, Marten M; Schubach, Max M; Zemojtel, Tomasz T; Reinert, Knut K; Church, Deanna M DM; Robinson, Peter N PN

Publication Date: 2016-12-13

Variant appearance in text: rs2736172

PubMed Link: 27964746

Variant Present in the following documents:

• 13073_2016_383_MOESM1_ESM.pdf

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Genotype-based test in mapping cis-regulatory variants from allele-specific expression data.

Plos One

Lefebvre, Jean Francois JF; Vello, Emilio E; Ge, Bing B; Montgomery, Stephen B SB; Dermitzakis, Emmanouil T ET; Pastinen, Tomi T; Labuda, Damian D

Publication Date: 2012

Variant appearance in text: rs2736172

PubMed Link: 22685595

Variant Present in the following documents:

• Main text
• pone.0038667.pdf

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The association of genome-wide significant spirometric loci with chronic obstructive pulmonary disease susceptibility.

American Journal Of Respiratory Cell And Molecular Biology

Castaldi, Peter J PJ; Cho, Michael H MH; Litonjua, Augusto A AA; Bakke, Per P; Gulsvik, Amund A; Lomas, David A DA; Anderson, Wayne W; Beaty, Terri H TH; Hokanson, John E JE; Crapo, James D JD; Laird, Nan N; Silverman, Edwin K EK; ,

Publication Date: 2011-12

Variant appearance in text: rs2736172

PubMed Link: 21659657

Variant Present in the following documents:

• Main text

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Two-stage joint selection method to identify candidate markers from genome-wide association studies.

Bmc Proceedings

Wu, Zheyang Z; Aporntewan, Chatchawit C; Ballard, David H DH; Lee, Ji Young JY; Lee, Joon Sang JS; Zhao, Hongyu H

Publication Date: 2009-12-15

Variant appearance in text: rs2736172

PubMed Link: 20018019

Variant Present in the following documents:

• Main text
• 1753-6561-3-S7-S29.pdf

View BVdb publication page

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