Varaico: Literature-Extracted Genetic Variants

Gene:UBAP1L
Variant:p.S212_R215delFs
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UBAP1L

NM_001163692.2:p.S212_R215delFs

Associated Papers

Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies.

Ullah E et al.

Jama Ophthalmology, 2024

Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.

Han JH et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

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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."