Varaico: Literature-Extracted Genetic Variants

Gene:DNHD1
Variant:p.R2928*
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DNHD1

NM_144666.3:p.R2928*

Associated Papers

The Molecular Basis of Multiple Morphological Abnormalities of Sperm Flagella and Its Impact on Clinical Practice.

Zhou Y et al.

Genes, 2024

New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella.

Martinez G et al.

International Journal of Molecular Sciences, 2023

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Subramanian DN et al.

Nature Communications, 2020

32242007 (PubMed )
Supplement: 41467_2020_15461_MOESM4_ESM.xlsx › Data_1

Exome Pool-Seq in neurodevelopmental disorders.

Popp B et al.

European Journal of Human Genetics : Ejhg, 2017

29158550 (PubMed )
Supplement: 41431_2017_22_MOESM7_ESM.xlsx › Cand_LOF_inhAR

Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy.

Ung C et al.

Vision Research, 2017

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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."