Varaico: Literature-Extracted Genetic Variants

Gene:MNS1
Variant:p.R242*
Back to variants list

MNS1

NM_018365.4:p.R242*

Associated Papers

Expanding MNS1 Heterotaxy Phenotype.

Maraval J et al.

American Journal of Medical Genetics. Part A, 2025

Clinical, phenotype and genotype correlations in primary ciliary dyskinesia suspected children in Egypt.

Rizk H et al.

Frontiers in Molecular Biosciences, 2025

Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement.

Hjeij R et al.

Cells, 2024

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc3.xlsx › Suppl_Table_3A

Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases.

Antony D et al.

Frontiers in Genetics, 2022

MNS1 variant associated with situs inversus and male infertility.

Leslie JS et al.

European Journal of Human Genetics : Ejhg, 2020

A novel nonsense variant in SUPT20H gene associated with Rheumatoid Arthritis identified by Whole Exome Sequencing of multiplex families.

Veyssiere M et al.

Plos One, 2019

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.

Ta-Shma A et al.

Plos Genetics, 2018

A novel homozygous frameshift mutation in MNS1 associated with severe oligoasthenoteratozoospermia in humans.

Li Y et al.

Asian Journal of Andrology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."