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: rs183671

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Association of pigmentation related-genes polymorphisms and geographic environmental variables in the Chinese population.

Hereditas

Wang, Yuxin Y

Publication Date: 2021-07-08

Variant appearance in text: rs183671

PubMed Link: 34238381

Variant Present in the following documents:

• Main text
• 41065_2021_Article_189.pdf

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Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.

Bmc Genomics

Pośpiech, Ewelina E; Kukla-Bartoszek, Magdalena M; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Grzybowski, Tomasz T; Płoski, Rafał R; Spólnicka, Magdalena M; Branicki, Wojciech W

Publication Date: 2020-08-05

Variant appearance in text: rs183671

PubMed Link: 32758128

Variant Present in the following documents:

• 12864_2020_6926_MOESM1_ESM.pdf

View BVdb publication page

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A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia.

Nature Communications

Adhikari, Kaustubh K; Mendoza-Revilla, Javier J; Sohail, Anood A; Fuentes-Guajardo, Macarena M; Lampert, Jodie J; Chacón-Duque, Juan Camilo JC; Hurtado, Malena M; Villegas, Valeria V; Granja, Vanessa V; Acuña-Alonzo, Victor V; Jaramillo, Claudia C; Arias, William W; Lozano, Rodrigo Barquera RB; Everardo, Paola P; Gómez-Valdés, Jorge J; Villamil-Ramírez, Hugo H; Silva de Cerqueira, Caio C CC; Hunemeier, Tábita T; Ramallo, Virginia V; Schuler-Faccini, Lavinia L; Salzano, Francisco M FM; Gonzalez-José, Rolando R; Bortolini, Maria-Cátira MC; Canizales-Quinteros, Samuel S; Gallo, Carla C; Poletti, Giovanni G; Bedoya, Gabriel G; Rothhammer, Francisco F; Tobin, Desmond J DJ; Fumagalli, Matteo M; Balding, David D; Ruiz-Linares, Andrés A

Publication Date: 2019-01-21

Variant appearance in text: rs183671

PubMed Link: 30664655

Variant Present in the following documents:

• 41467_2018_8147_MOESM1_ESM.pdf

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: rs183671

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.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: rs183671

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features.

Nature Communications

Adhikari, Kaustubh K; Fontanil, Tania T; Cal, Santiago S; Mendoza-Revilla, Javier J; Fuentes-Guajardo, Macarena M; Chacón-Duque, Juan-Camilo JC; Al-Saadi, Farah F; Johansson, Jeanette A JA; Quinto-Sanchez, Mirsha M; Acuña-Alonzo, Victor V; Jaramillo, Claudia C; Arias, William W; Barquera Lozano, Rodrigo R; Macín Pérez, Gastón G; Gómez-Valdés, Jorge J; Villamil-Ramírez, Hugo H; Hunemeier, Tábita T; Ramallo, Virginia V; Silva de Cerqueira, Caio C CC; Hurtado, Malena M; Villegas, Valeria V; Granja, Vanessa V; Gallo, Carla C; Poletti, Giovanni G; Schuler-Faccini, Lavinia L; Salzano, Francisco M FM; Bortolini, Maria-Cátira MC; Canizales-Quinteros, Samuel S; Rothhammer, Francisco F; Bedoya, Gabriel G; Gonzalez-José, Rolando R; Headon, Denis D; López-Otín, Carlos C; Tobin, Desmond J DJ; Balding, David D; Ruiz-Linares, Andrés A

Publication Date: 2016-03-01

Variant appearance in text: rs183671

PubMed Link: 26926045

Variant Present in the following documents:

• Main text
• ncomms10815-s1.pdf
• ncomms10815.pdf

View BVdb publication page

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Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.

Human Genetics

Liu, Fan F; Visser, Mijke M; Duffy, David L DL; Hysi, Pirro G PG; Jacobs, Leonie C LC; Lao, Oscar O; Zhong, Kaiyin K; Walsh, Susan S; Chaitanya, Lakshmi L; Wollstein, Andreas A; Zhu, Gu G; Montgomery, Grant W GW; Henders, Anjali K AK; Mangino, Massimo M; Glass, Daniel D; Bataille, Veronique V; Sturm, Richard A RA; Rivadeneira, Fernando F; Hofman, Albert A; van IJcken, Wilfred F J WF; Uitterlinden, André G AG; Palstra, Robert-Jan T S RJ; Spector, Timothy D TD; Martin, Nicholas G NG; Nijsten, Tamar E C TE; Kayser, Manfred M

Publication Date: 2015-08

Variant appearance in text: rs183671

PubMed Link: 25963972

Variant Present in the following documents:

• Main text
• 439_2015_Article_1559.pdf
• 439_2015_1559_MOESM5_ESM.xlsx, sheet 5

View BVdb publication page

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Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.

Plos One

Candille, Sophie I SI; Absher, Devin M DM; Beleza, Sandra S; Bauchet, Marc M; McEvoy, Brian B; Garrison, Nanibaa' A NA; Li, Jun Z JZ; Myers, Richard M RM; Barsh, Gregory S GS; Tang, Hua H; Shriver, Mark D MD

Publication Date: 2012

Variant appearance in text: rs183671

PubMed Link: 23118974

Variant Present in the following documents:

• Main text
• pone.0048294.pdf

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A genomewide association study of skin pigmentation in a South Asian population.

American Journal Of Human Genetics

Stokowski, Renee P RP; Pant, P V Krishna PV; Dadd, Tony T; Fereday, Amelia A; Hinds, David A DA; Jarman, Carl C; Filsell, Wendy W; Ginger, Rebecca S RS; Green, Martin R MR; van der Ouderaa, Frans J FJ; Cox, David R DR

Publication Date: 2007-12

Variant appearance in text: rs183671

PubMed Link: 17999355

Variant Present in the following documents:

• Main text

View BVdb publication page

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