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: 923C>T; Thr308Met; rs375127718

PubMed Link: 35452484

Variant Present in the following documents:

• Main text
• pone.0267286.pdf

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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: rs375127718

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: rs375127718

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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Acquired melanocytic naevus phenotypes and MC1R genotypes in Han Chinese: a cross-sectional study.

Peerj

Li, Xiaohong X; Lee, Katie J KJ; Duffy, David L DL; Xu, Dandan D; Basude, Madhur Eshwar Rao MER; Hu, Ying Y; Zhang, Hang H; Jagirdar, Kasturee K; Soyer, H Peter HP; Dong, Huiting H; Sturm, Richard A RA

Publication Date: 2017

Variant appearance in text: MC1R: T308M

PubMed Link: 29340229

Variant Present in the following documents:

• Main text
• peerj-05-4168.pdf
• peerj-05-4168-s002.xlsx, sheet 1

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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: rs375127718

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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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: T308M; rs375127718

PubMed Link: 25794181

Variant Present in the following documents:

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: MC1R: T308M

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.

The British Journal Of Dermatology

Puig-Butillé, J A JA; Carrera, C C; Kumar, R R; Garcia-Casado, Z Z; Badenas, C C; Aguilera, P P; Malvehy, J J; Nagore, E E; Puig, S S

Publication Date: 2013-10

Variant appearance in text: MC1R: 923C>T; T308M

PubMed Link: 23647022

Variant Present in the following documents:

• Main text

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Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy.

Bmc Cancer

Casula, Milena M; Muggiano, Antonio A; Cossu, Antonio A; Budroni, Mario M; Caracò, Corrado C; Ascierto, Paolo A PA; Pagani, Elena E; Stanganelli, Ignazio I; Canzanella, Sergio S; Sini, Mariacristina M; Palomba, Grazia G; , ; Palmieri, Giuseppe G

Publication Date: 2009-10-03

Variant appearance in text: MC1R: T308M

PubMed Link: 19799798

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline variation of the melanocortin-1 receptor does not explain shared risk for melanoma and thyroid cancer.

Experimental Dermatology

Bauer, Jürgen J; Weng, Julie J; Kebebew, Electron E; Soares, Paula P; Trovisco, Vitor V; Bastian, Boris C BC

Publication Date: 2009-06

Variant appearance in text: MC1R: T308M

PubMed Link: 19493000

Variant Present in the following documents:

• Main text

View BVdb publication page

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Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.

Bmc Genetics

Savage, Sharon A SA; Gerstenblith, Meg R MR; Goldstein, Alisa M AM; Mirabello, Lisa L; Fargnoli, Maria Concetta MC; Peris, Ketty K; Landi, Maria Teresa MT

Publication Date: 2008-04-10

Variant appearance in text: MC1R: 923C>T; T308M

PubMed Link: 18402696

Variant Present in the following documents:

• Main text
• 1471-2156-9-31.pdf

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