Varaico: Literature-Extracted Genetic Variants

Gene:RHBDL2
Variant:p.E82_L83Splc
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RHBDL2

NM_017821.5:p.E82_L83Splc

Associated Papers

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF
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