Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB18
Variant:p.R315fs
Back to variants list

ZBTB18

NM_205768.3:p.R315fs

Associated Papers

A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.

Li N et al.

Neurogenetics, 2023

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

Cohen JS et al.

Clinical Genetics, 2017

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Depienne C et al.

Human Genetics, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."