Varaico: Literature-Extracted Genetic Variants

Gene:DLX4
Variant:p.Q183R
Back to variants list

DLX4

NM_138281.3:p.Q183R

Associated Papers

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

Bogaert E et al.

American Journal of Human Genetics, 2023

37071997 (PubMed )
Supplement: mmc3.pdf

DLX4 is associated with orofacial clefting and abnormal jaw development.

Wu D et al.

Human Molecular Genetics, 2015

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."