Publications:

Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.

Translational Vision Science & Technology

Litts, Katie M KM; Woertz, Erica N EN; Wynne, Niamh N; Brooks, Brian P BP; Chacon, Alicia A; Connor, Thomas B TB; Costakos, Deborah D; Dumitrescu, Alina A; Drack, Arlene V AV; Fishman, Gerald A GA; Hauswirth, William W WW; Kay, Christine N CN; Lam, Byron L BL; Michaelides, Michel M; Pennesi, Mark E ME; Stepien, Kimberly E KE; Strul, Sasha S; Summers, C Gail CG; Carroll, Joseph J

Publication Date: 2021-05-03

Variant appearance in text: OCA2: 1109T>C; I370T

PubMed Link: 34111268

Variant Present in the following documents:

• tvst-10-6-22_s007.pdf

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Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.

Plos One

Rayner, Jenna E JE; Duffy, David L DL; Smit, Darren J DJ; Jagirdar, Kasturee K; Lee, Katie J KJ; De'Ambrosis, Brian B; Smithers, B Mark BM; McMeniman, Erin K EK; McInerney-Leo, Aideen M AM; Schaider, Helmut H; Stark, Mitchell S MS; Soyer, H Peter HP; Sturm, Richard A RA

Publication Date: 2020

Variant appearance in text: OCA2: I370T; rs34731820

PubMed Link: 32966289

Variant Present in the following documents:

• Main text
• pone.0238529.s010.xlsx, sheet 1
• pone.0238529.pdf

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: OCA2: I370T; rs34731820

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: OCA2: I370T; rs34731820

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: OCA2: I370T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page