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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERN2

Variant:p.G88V

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ERN2

NM_033266.4:p.G88V

hg38:chr16:23710215 C>A

Associated Papers

Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study.

Vakkilainen S et al.

Journal of Clinical Immunology, 2021

33675005 (PubMed )

A 30-Year Prospective Follow-Up Study Reveals Risk Factors for Early Death in Cartilage-Hair Hypoplasia.

Vakkilainen S et al.

Frontiers in Immunology, 2019

31379817 (PubMed )

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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."