Varaico: Literature-Extracted Genetic Variants

Gene:KLHL10
Variant:p.N81I
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KLHL10

NM_152467.5:p.N81I

Associated Papers

The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.

Gao Y et al.

Human Reproduction Update, 2026

A newborn with a pathogenic variant in ASXL2 expanding the phenotype of SHAPNS: a case report and literature review.

Yuan M et al.

Translational Pediatrics, 2023

36798937 (PubMed )
Supplement: tp-12-01-86-supplementary.pdf

Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.

Quarantani G et al.

Plos One, 2023

Development of a novel next-generation sequencing panel for diagnosis of quantitative spermatogenic impairment.

Rocca MS et al.

Journal of Assisted Reproduction and Genetics, 2020

Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes.

Araujo TF et al.

Andrology, 2020

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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."