Varaico: Literature-Extracted Genetic Variants

Gene:DPM2
Variant:p.L30V
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DPM2

NM_003863.4:p.L30V

Associated Papers

Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy.

Rufibach L et al.

Journal of Personalized Medicine, 2023

36983702 (PubMed )
Supplement: jpm-13-00520-s001.zip › Supplementary_tables_S1-S4.xlsx › Table_S3_-_Clinical_data
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