Varaico: Literature-Extracted Genetic Variants

Gene:MYO18B
Variant:p.Q40*
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MYO18B

NM_032608.7:p.Q40*

Associated Papers

Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5'UTR variants in three-generational pedigree.

Trizuljak J et al.

Platelets, 2024

39212265 (PubMed )
Supplement: supplement_1.pdf

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › together
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