Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.T103P
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PRKN

NM_004562.3:p.T103P

Associated Papers

Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations.

Bossuyt SNV et al.

Human Molecular Genetics, 2021

33607653 (PubMed )
Supplement: bossuyt-hmg-2021-d-00033-supplemental_data-final_ddab050.zip › Bossuyt-HMG-2021-D-00033-Supplemental_data-final_ddab050.pdf
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