Varaico: Literature-Extracted Genetic Variants

Gene:CRELD1
Variant:p.R204C
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CRELD1

NM_001077415.3:p.R204C

Associated Papers

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.

Chundru VK et al.

Nature Genetics, 2024

39313616 (PubMed )
Supplement: 41588_2024_1910_MOESM1_ESM.pdf

Stimulating T cell responses against patient-derived breast cancer cells with neoantigen peptide-loaded peripheral blood mononuclear cells.

Sueangoen N et al.

Cancer Immunology, Immunotherapy : Cii, 2024

38349410 (PubMed )
Supplement: 262_2024_3627_MOESM6_ESM.pdf

The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.

Reuter MS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32037394 (PubMed )
Supplement: 41436_2020_757_MOESM2_ESM.xlsx › Variants_uncertain_significance
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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."