Varaico: Literature-Extracted Genetic Variants

Gene:MYO18B
Variant:p.G2256delFs
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MYO18B

NM_032608.7:p.G2256delFs

Associated Papers

Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient.

Mihaylova V et al.

Neurology. Genetics, 2020

The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.

Li Z et al.

Bmc Musculoskeletal Disorders, 2020

Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review.

Miller DB et al.

Frontiers in Genetics, 2020

32508881 (PubMed )
Supplement: Data_Sheet_1.xlsx › T2

Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma.

Schieffer KM et al.

European Journal of Medical Genetics, 2019

Germline susceptibility from broad genomic profiling of pediatric brain cancers.

Mardis ER et al.

Neuro-oncology Advances, 0

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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."