Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.M443fs
Back to variants list

CHD7

NM_017780.4:p.M443fs

Associated Papers

A genome-wide DNA methylation signature for SETD1B-related syndrome.

Krzyzewska IM et al.

Clinical Epigenetics, 2019

31685013 (PubMed )
Supplement: 13148_2019_749_MOESM5_ESM.xlsx › Sheet1

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

Butcher DT et al.

American Journal of Human Genetics, 2017

28475860 (PubMed )
Supplement: mmc1.pdf
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."