Varaico: Literature-Extracted Genetic Variants

Gene:CSF1
Variant:p.R53W
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CSF1

NM_000757.6:p.R53W

Associated Papers

A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.

Ben-Mahmoud A et al.

Frontiers in Molecular Neuroscience, 2022

36277487 (PubMed )
Supplement: Table_2.docx

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 › DbMS-non_synonymous_ex
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