Varaico: Literature-Extracted Genetic Variants

Gene:WDR75
Variant:p.R543Splc
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WDR75

NM_032168.3:p.R543Splc

Associated Papers

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

Kohda M et al.

Plos Genetics, 2016

26741492 (PubMed )
Supplement: pgen.1005679.s021.xlsx › Prioritized_variants_from_exome
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