Varaico: Literature-Extracted Genetic Variants

Gene:DNAH9
Variant:p.F103insFs
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DNAH9

NM_001372.4:p.F103insFs

Associated Papers

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Dong W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs

Genetic etiological spectrum of sperm morphological abnormalities.

Arora M et al.

Journal of Assisted Reproduction and Genetics, 2024

Biallelic DNAH9 mutations are identified in Chinese patients with defective left-right patterning and cilia-related complex congenital heart disease.

Chen W et al.

Human Genetics, 2022

The Genetics of Primary Ciliary Dyskinesia in Puerto Rico.

De Jesús-Rojas W et al.

Diagnostics (basel, Switzerland), 2022

Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit.

Miletic A et al.

European Journal of Pediatrics, 2021

Novel variants in DNAH9 lead to nonsyndromic severe asthenozoospermia.

Tang D et al.

Reproductive Biology and Endocrinology : Rb&e, 2021

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.

Loges NT et al.

American Journal of Human Genetics, 2018

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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."