Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.L859_L860delFs
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UBE3A

NM_130839.5:p.L859_L860delFs

Associated Papers

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.

Mellone S et al.

Frontiers in Genetics, 2022

36035117 (PubMed )
Supplement: Table2.pdf
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