Varaico: Literature-Extracted Genetic Variants

Gene:GK2
Variant:p.Q165*
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GK2

NM_033214.3:p.Q165*

Associated Papers

Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.

Bakhshalizadeh S et al.

Human Genetics, 2023

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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."