Varaico: Literature-Extracted Genetic Variants

Gene:KHDRBS1
Variant:p.M154V
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KHDRBS1

NM_006559.3:p.M154V

Associated Papers

Defects in mRNA splicing and implications for infertility: a comprehensive review and in silico analysis.

Li K et al.

Human Reproduction Update, 2025

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

Sequence variants of KHDRBS1 as high penetrance susceptibility risks for primary ovarian insufficiency by mis-regulating mRNA alternative splicing.

Wang B et al.

Human Reproduction (oxford, England), 2017

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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."