Varaico: Literature-Extracted Genetic Variants

Gene:OBSL1
Variant:p.R419C
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OBSL1

NM_015311.3:p.R419C

Associated Papers

Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system.

Allred ET et al.

Frontiers in Pediatrics, 2023

Diagnostic Yield of Genetic Testing in Sudden Cardiac Death with Autopsy Findings of Uncertain Significance.

Iglesias M et al.

Journal of Clinical Medicine, 2021

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1535.548
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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."