Varaico: Literature-Extracted Genetic Variants

Gene:SYNM
Variant:p.Q200*
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SYNM

NM_145728.3:p.Q200*

Associated Papers

Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.

Parra-Perez AM et al.

Medcomm, 2025

40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS5

Common germline-somatic variant interactions in advanced urothelial cancer.

Vosoughi A et al.

Nature Communications, 2020

33273457 (PubMed )
Supplement: 41467_2020_19971_MOESM4_ESM.xlsx › Suppl._Data_2

Synemin-related skeletal and cardiac myopathies: an overview of pathogenic variants.

Paulin D et al.

American Journal of Physiology. Cell Physiology, 2020

Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3.

Mizuno Y et al.

Bmc Genetics, 2001

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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."