Varaico: Literature-Extracted Genetic Variants

Gene:DNAH1
Variant:p.K1154Q
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DNAH1

NM_015512.5:p.K1154Q

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Identification of novel compound heterozygous variants in the DNAH1 gene of a Chinese family with left-right asymmetry disorder.

Yuan L et al.

Frontiers in Molecular Biosciences, 2023

Successful Live Birth Following Natural Cycle Oocyte Retrieval in a Woman with Primary Infertility and Atypical Primary Ovarian Insufficiency with a DNAH1 Gene Deletion Mutation.

Liu M et al.

Genetic Testing and Molecular Biomarkers, 2021

Bronchiolitis Obliterans and Primary Ciliary Dyskinesia: What Is the Link?

Caballero-Colón NM et al.

Cureus, 2021

The genetic architecture of morphological abnormalities of the sperm tail.

Touré A et al.

Human Genetics, 2021

A genomics approach to male infertility.

Alhathal N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Variation in DNAH1 may contribute to primary ciliary dyskinesia.

Imtiaz F et al.

Bmc Medical Genetics, 2015

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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."