Varaico: Literature-Extracted Genetic Variants

Gene:ERN1
Variant:p.T27T
Back to variants list

ERN1

NM_001433.5:p.T27T

Associated Papers

Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report.

Park JH et al.

Medicine, 2024

Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea.

Namgoong H et al.

Annals of Laboratory Medicine, 2021

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."