Varaico: Literature-Extracted Genetic Variants

Gene:RABGAP1L
Variant:p.K519E
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RABGAP1L

NM_001366446.1:p.K519E

Associated Papers

Genetic testing involving 100 common mutations for antenatal diagnosis of hereditary hearing loss in Chongqing, China.

Hu H et al.

Medicine, 2021

33907123 (PubMed )
Supplement: medi-100-e25647-s001.xlsx › Table_S1

A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss.

Liu Y et al.

Plos One, 2019

Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach.

Yan D et al.

Plos One, 2017

Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.

Wu H et al.

Plos One, 2016

Impact of gene patents and licensing practices on access to genetic testing for hearing loss.

Chandrasekharan S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."