Varaico: Literature-Extracted Genetic Variants

Gene:QRSL1
Variant:p.G204R
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QRSL1

NM_018292.5:p.G204R

Associated Papers

Adrenal Dysfunction in Mitochondrial Diseases.

Corkery-Hayward M et al.

International Journal of Molecular Sciences, 2023

Primary adrenal insufficiency in a patient with biallelic QRSL1 mutations.

Dursun F et al.

European Journal of Endocrinology, 2022

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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."