Varaico: Literature-Extracted Genetic Variants

Gene:ZNF292
Variant:p.R358C
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ZNF292

NM_015021.3:p.R358C

Associated Papers

Short Stature and Developmental Delay Associated With a Novel Frame-Shift Mutation in ZNF292: Case Report and Literature Review.

Dongxue L et al.

Clinical Case Reports, 2025

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Mirzaa GM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31723249 (PubMed )
Supplement: NIHMS1543809-supplement-Table_S5.xlsx › S5_-_Published_ZNF292_variants
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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."