Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A8
Variant:p.G344D
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SLC16A8

NM_013356.3:p.G344D

Associated Papers

Whole Genome Sequencing Identifies Novel Common and Low-Frequency Variants Associated With Age-Related Macular Degeneration.

Acar IE et al.

Investigative Ophthalmology & Visual Science, 2023

37975850 (PubMed )
Supplement: iovs-64-14-24_s003.xlsx › Supplementary_Table_15

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.

Eisenberger T et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29309402 (PubMed )
Supplement: gim2017155x6.pdf
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