Publications:

New Omics-Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype?

International Journal Of Molecular Sciences

Donato, Luigi L; Scimone, Concetta C; Alibrandi, Simona S; Abdalla, Ebtesam Mohamed EM; Nabil, Karim Mahmoud KM; D'Angelo, Rosalia R; Sidoti, Antonina A

Publication Date: 2020-12-23

Variant appearance in text: C8orf37: P19S; rs36096184

PubMed Link: 33374679

Variant Present in the following documents:

• Main text
• ijms-22-00070.pdf

View BVdb publication page

Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics

Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM

Publication Date: 2020-11-30

Variant appearance in text: rs36096184

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 24
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 19
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 27
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 25
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 3

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: C8orf37: P19S

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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: rs36096184

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page