Varaico: Literature-Extracted Genetic Variants

Gene:ADH5
Variant:p.P243S
Back to variants list

ADH5

NM_000671.4:p.P243S

Associated Papers

Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.

Mary L et al.

American Journal of Medical Genetics. Part A, 2017

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

Grzeschik KH et al.

Nature Genetics, 2007

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."