Varaico: Literature-Extracted Genetic Variants

Gene:POMP
Variant:p.E52G
Back to variants list

POMP

NM_015932.6:p.E52G

Associated Papers

Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function.

Tooze RS et al.

Journal of Medical Genetics, 2023

36543535 (PubMed )
Supplement: jmg-2022-108946supp001.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."