Varaico: Literature-Extracted Genetic Variants

Gene:PCARE
Variant:p.G1154fs
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PCARE

NM_001029883.3:p.G1154fs

Associated Papers

Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.

Midgley N et al.

Molecular Genetics & Genomic Medicine, 2024

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Hitti-Malin RJ et al.

Biomolecules, 2024

38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S2-Possibly_and_very_likely_solved_probands.xlsx › Sheet1
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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."