Varaico: Literature-Extracted Genetic Variants

Gene:ELAVL3
Variant:p.P47S
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ELAVL3

NM_001420.4:p.P47S

Associated Papers

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.

Fasano G et al.

Nature Communications, 2022

36369169 (PubMed )
Supplement: 41467_2022_34354_MOESM1_ESM.pdf

The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.

Rodin RE et al.

Nature Neuroscience, 2021

33432195 (PubMed )
Supplement: NIHMS1648954-supplement-1648954_SuppTables.xlsx › Table_S7.2
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