Varaico: Literature-Extracted Genetic Variants

Gene:BRAF
Variant:p.L485del1
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BRAF

NM_004333.6:p.L485del1

Associated Papers

A Literature Review and Pooled Case Analysis of Cardiofaciocutaneous Syndrome to Estimate Cancer Risk.

Bess J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.

Battaglia DI et al.

Genes, 2021

34573299 (PubMed )
Supplement: genes-12-01316-s001.zip › genes-1334004-supplementary.pdf

Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome.

Suzuki-Muromoto S et al.

Journal of Human Genetics, 2019

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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."