Varaico: Literature-Extracted Genetic Variants

Gene:ERN2
Variant:p.G88C
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ERN2

NM_033266.4:p.G88C

Associated Papers

Decreased telomere length in children with cartilage-hair hypoplasia.

Kostjukovits S et al.

Journal of Medical Genetics, 2017

RNase MRP RNA and human genetic diseases.

Martin AN et al.

Cell Research, 2007

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.

Ridanpää M et al.

Cell, 2001

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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."