Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.R585L
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CBL

NM_005188.4:p.R585L

Associated Papers

The clinical and genetic spectrum of pediatric hypertrophic cardiomyopathy manifesting before one year of age.

Fetisova S et al.

Pediatric Research, 2025

40102575 (PubMed )
Supplement: 41390_2025_3989_MOESM2_ESM.xlsx › ____1

ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.

Sande CM et al.

The Journal of Clinical Investigation, 2025

40179146 (PubMed )
Supplement: jci-135-181659-s295.pdf

[Summary of the first Hungarian experiences with prenatal chromosomal microarray analysis and whole-exome sequencing].

Pikó H et al.

Orvosi Hetilap, 2024

Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.

Mitchell CW et al.

The Journal of Biological Chemistry, 2022

35863433 (PubMed )
Supplement: mmc4.xlsx › -4_position

Neonatal hypertrophic cardiomyopathy caused by double mutation in RAS pathway genes.

Pervunina T et al.

International Journal of Cardiology, 2015

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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."