Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.C989fs
Back to variants list

CHD7

NM_017780.4:p.C989fs

Associated Papers

Whole-exome sequencing reveals genetic variants that may play a role in neurocytomas.

Khowal S et al.

Journal of Neuro-oncology, 2024

Next-generation sequencing for the diagnosis of patients with congenital multiple anomalies and / or intellectual disabilities.

Suga K et al.

The Journal of Medical Investigation : Jmi, 2020

A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome.

Kohmoto T et al.

Human Genome Variation, 2016

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."