Varaico: Literature-Extracted Genetic Variants

Gene:DNHD1
Variant:p.R861C
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DNHD1

NM_144666.3:p.R861C

Associated Papers

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

Zhou Y et al.

Genes, 2024

Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias.

Koprulu M et al.

The Yale Journal of Biology and Medicine, 2023

37780995 (PubMed )
Supplement: yjbm_96_3_367_appendixB.xlsx › Sheet1

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

Martinez G et al.

International Journal of Molecular Sciences, 2023

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1696.600
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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."