Publications:

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Genetic diversity of the melanocortin-1 receptor in an admixed population of Rio de Janeiro: Structural and functional impacts of Cys35Tyr variant.

Plos One

Neitzke-Montinelli, Vanessa V; da Silva Figueiredo Celestino Gomes, Priscila P; Pascutti, Pedro G PG; Moura-Neto, Rodrigo S RS; Silva, Rosane R

Publication Date: 2022

Variant appearance in text: MC1R: Arg67Trp; rs372590533

PubMed Link: 35452484

Variant Present in the following documents:

• pone.0267286.s002.xlsx, sheet 1

View BVdb publication page

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Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T

Publication Date: 2021-12

Variant appearance in text: rs372590533

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

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Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T

Publication Date: 2021-12

Variant appearance in text: rs372590533

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

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A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes.

International Journal Of Molecular Sciences

De Simone, Paola P; Bottillo, Irene I; Valiante, Michele M; Iorio, Alessandra A; De Bernardo, Carmelilia C; Majore, Silvia S; D'Angelantonio, Daniela D; Valentini, Tiziana T; Sperduti, Isabella I; Piemonte, Paolo P; Eibenschutz, Laura L; Ferrari, Angela A; Carbone, Anna A; Buccini, Pierluigi P; Paiardini, Alessandro A; Silipo, Vitaliano V; Frascione, Pasquale P; Grammatico, Paola P

Publication Date: 2020-12-11

Variant appearance in text: MC1R: R67W

PubMed Link: 33322357

Variant Present in the following documents:

• ijms-21-09432.pdf

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The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Oncotarget

Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J

Publication Date: 2018-06-08

Variant appearance in text: rs372590533

PubMed Link: 29937994

Variant Present in the following documents:

• oncotarget-09-27412-s004.xlsx, sheet 1

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs372590533

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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Cutaneous melanoma primary site is linked to nevus density.

Oncotarget

Martin-Gorgojo, Alejandro A; Llinares, Marta M; Virós, Amaya A; Requena, Celia C; Garcia-Casado, Zaida Z; Traves, Víctor V; Kumar, Rajiv R; Nagore, Eduardo E

Publication Date: 2017-11-17

Variant appearance in text: MC1R: R67W

PubMed Link: 29228734

Variant Present in the following documents:

• oncotarget-08-98876-s001.pdf

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Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.

Plos One

Hepp, Diego D; Gonçalves, Gislene Lopes GL; de Freitas, Thales Renato Ochotorena TR

Publication Date: 2015

Variant appearance in text: MC1R: R67W; rs372590533

PubMed Link: 25794181

Variant Present in the following documents:

• Main text
• pone.0121812.pdf

View BVdb publication page

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A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

Biomed Research International

Hu, Hui-Han HH; Benfodda, Mériem M; Dumaz, Nicolas N; Gazal, Steven S; Descamps, Vincent V; Bourillon, Agnès A; Basset-Seguin, Nicole N; Riffault, Angélique A; Ezzedine, Khaled K; Bagot, Martine M; Bensussan, Armand A; Saiag, Philippe P; Grandchamp, Bernard B; Soufir, Nadem N

Publication Date: 2014

Variant appearance in text: MC1R: 199C>T; R67W

PubMed Link: 24982914

Variant Present in the following documents:

• Main text
• BMRI2014-925716.pdf
• 925716.f1.pdf

View BVdb publication page

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Mutations in MC1R gene determine black coat color phenotype in Chinese sheep.

Thescientificworldjournal

Yang, Guang-Li GL; Fu, Dong-Li DL; Lang, Xia X; Wang, Yu-Tao YT; Cheng, Shu-Ru SR; Fang, Su-Li SL; Luo, Yu-Zhu YZ

Publication Date: 2013

Variant appearance in text: MC1R: 199C>T

PubMed Link: 24082855

Variant Present in the following documents:

• Main text
• TSWJ2013-675382.pdf

View BVdb publication page

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