Varaico: Literature-Extracted Genetic Variants

Gene:MRPS22
Variant:p.R135Q
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MRPS22

NM_020191.4:p.R135Q

Associated Papers

Genetic insights into the complexity of premature ovarian insufficiency.

Nie L et al.

Reproductive Biology and Endocrinology : Rb&e, 2024

The Diseased Mitoribosome.

Ferrari A et al.

Febs Letters, 2021

Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.

França MM et al.

Journal of the Endocrine Society, 2020

Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.

Jolly A et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.

Chen A et al.

Human Molecular Genetics, 2018

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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."