Varaico: Literature-Extracted Genetic Variants

Gene:ZNF638
Variant:p.P1081R
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ZNF638

NM_014497.5:p.P1081R

Associated Papers

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

Jia X et al.

Science Advances, 2022

35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes

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

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

Neale BM et al.

Nature, 2012

22495311 (PubMed )
Supplement: NIHMS361899-supplement-2.xls › De_Novo_Mutations
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."