Varaico: Literature-Extracted Genetic Variants

Gene:TG
Variant:p.L388L
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TG

NM_003235.5:p.L388L

Associated Papers

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.

Coppieters F et al.

American Journal of Human Genetics, 2016

27486781 (PubMed )
Supplement: mmc2.pdf
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