Varaico: Literature-Extracted Genetic Variants

Gene:KHDRBS1
Variant:p.P296L
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KHDRBS1

NM_006559.3:p.P296L

Associated Papers

Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants.

Ma KY et al.

Npj Parkinson's Disease, 2021

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

França MM et al.

Journal of the Endocrine Society, 2020

A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency.

Carlosama C et al.

Clinical Endocrinology, 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."