Varaico: Literature-Extracted Genetic Variants

Gene:ACER1
Variant:p.N18S
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ACER1

NM_133492.3:p.N18S

Associated Papers

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Kosmicki JA et al.

Nature Genetics, 2017

28191890 (PubMed )
Supplement: NIHMS845776-supplement-5.xlsx › Congenital_Heart_Disease

Mutational signatures of de-differentiation in functional non-coding regions of melanoma genomes.

Parker SC et al.

Plos Genetics, 2012

22912592 (PubMed )
Supplement: pgen.1002871.s018.xls › cellCulture
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