Publications:

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Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.

Genes

Mc Clinton, Benjamin B; Corradi, Zelia Z; McKibbin, Martin M; Panneman, Daan M DM; Roosing, Susanne S; Boonen, Erica G M EGM; Ali, Manir M; Watson, Christopher M CM; Steel, David H DH; Cremers, Frans P M FPM; Inglehearn, Chris F CF; Hitti-Malin, Rebekkah J RJ; Toomes, Carmel C

Publication Date: 2023-01-11

Variant appearance in text: BEST1: 889C>T; Pro297Ser

PubMed Link: 36672932

Variant Present in the following documents:

• genes-14-00191.pdf

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Clinical Correlation Between Optical Coherence Tomography Biomarkers and Retinal Sensitivity in Best Vitelliform Macular Dystrophy.

Translational Vision Science & Technology

Battaglia Parodi, Maurizio M; Bianco, Lorenzo L; Arrigo, Alessandro A; Saladino, Andrea A; Antropoli, Alessio A; Pina, Adelaide A; Marchese, Alessandro A; Aragona, Emanuela E; Rashid, Hassan Farah HF; Bandello, Francesco F

Publication Date: 2022-09-01

Variant appearance in text: BEST1: 889C>T; Pro297Ser

PubMed Link: 36156730

Variant Present in the following documents:

• Main text
• tvst-11-9-24.pdf

View BVdb publication page

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Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.

Acta Ophthalmologica

Nowomiejska, Katarzyna K; Nasser, Fadi F; Stingl, Katarina K; Schimpf-Linzenbold, Simone S; Biskup, Saskia S; Brzozowska, Agnieszka A; Rejdak, Robert R; Kohl, Susanne S; Zrenner, Eberhart E

Publication Date: 2022-05

Variant appearance in text: BEST1: 889C>T

PubMed Link: 34327816

Variant Present in the following documents:

• Main text
• nihms-1794562.pdf

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Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases.

Journal Of Ophthalmology

Khojasteh, Hassan H; Azarmina, Mohsen M; Ebrahimiadib, Nazanin N; Daftarian, Narsis N; Riazi-Esfahani, Hamid H; Naraghi, Houra H; Sabbaghi, Hamideh H; Khodabande, Alireza A; Faghihi, Hooshang H; Moghaddasi, Afrooz A; Bazvand, Fatemeh F; Manaviat, Masoud Reza MR; Ahmadieh, Hamid H; Hassanpoor, Narges N; Suri, Fatemeh F

Publication Date: 2021

Variant appearance in text: BEST1: Pro297Ser; rs1805143

PubMed Link: 34012682

Variant Present in the following documents:

• Main text
• joph2021-6674290.pdf

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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: VMD2: P297S; rs1805143

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports

Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK

Publication Date: 2014-11-14

Variant appearance in text: BEST1: P297S; rs1805143

PubMed Link: 25394353

Variant Present in the following documents:

• srep07063-s2.xls, sheet 2

View BVdb publication page

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