Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.D124H
Back to variants list

TWNK

NM_021830.5:p.D124H

Associated Papers

Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia.

Chen CP et al.

Prenatal Diagnosis, 2001

Thanatophoric dysplasia type I.

Chang TK et al.

Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi, 0

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."