Varaico: Literature-Extracted Genetic Variants

Gene:MND1
Variant:p.K85M
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MND1

NM_032117.4:p.K85M

Associated Papers

Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.

Sung CC et al.

Frontiers in Microbiology, 2024

39234544 (PubMed )
Supplement: Data_Sheet_2.xlsx › worksheet

Identification of a missense variant of MND1 in meiotic arrest and non-obstructive azoospermia.

Zhao J et al.

Journal of Human Genetics, 2023

Identification and Functional Investigation of Novel Heterozygous HELQ Mutations in Patients with Sertoli Cell-only Syndrome.

Murtaza G et al.

Genetic Testing and Molecular Biomarkers, 2021

Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Song J et al.

Molecular Brain, 2019

31699123 (PubMed )
Supplement: 13041_2019_507_MOESM1_ESM.xlsx › SNPs_merged_1000g_deleterious

A predicted deleterious allele of the essential meiosis gene MND1, present in ~ 3% of East Asians, does not disrupt reproduction in mice.

Tran TN et al.

Molecular Human Reproduction, 2019

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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."