Varaico: Literature-Extracted Genetic Variants

Gene:C19orf44
Variant:p.T549_A550del2
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C19orf44

NM_001288834.2:p.T549_A550del2

Associated Papers

Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration.

Hussain HMJ et al.

Journal of Medical Genetics, 2025

Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy.

Ehrenberg M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

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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."