Varaico: Literature-Extracted Genetic Variants

Gene:USP30
Variant:p.P200S
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USP30

NM_032663.5:p.P200S

Associated Papers

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.

Marcogliese PC et al.

Cell Reports, 2022

35294868 (PubMed )
Supplement: NIHMS1789669-supplement-1.pdf
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