Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD13
Variant:p.G30D
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KBTBD13

NM_001101362.3:p.G30D

Associated Papers

Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.

Potulska-Chromik A et al.

Journal of Clinical Medicine, 2021

33652732 (PubMed )
Supplement: jcm-10-00914-s001.zip › jcm-1102563-supplementary.xlsx › Variants_after_filtering

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing.

Sevy A et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2016

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