Varaico: Literature-Extracted Genetic Variants

Gene:DHH
Variant:p.R292insFs
Back to variants list

DHH

NM_021044.4:p.R292insFs

Associated Papers

Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene.

Gholizadeh MA et al.

Bmc Medical Genomics, 2022

Functional Genomics of PRUNE1 in Neurodevelopmental Disorders (NDDs) Tied to Medulloblastoma (MB) and Other Tumors.

Bibbò F et al.

Frontiers in Oncology, 2021

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."