Varaico: Literature-Extracted Genetic Variants

Gene:DZIP1
Variant:p.R63Q
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DZIP1

NM_198968.4:p.R63Q

Associated Papers

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

Zhou Y et al.

Genes, 2024

Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance.

Wang Y et al.

The British Journal of Ophthalmology, 2023

36180177 (PubMed )
Supplement: bjo-2022-321511supp006.pdf

Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.

Lv M et al.

Journal of Medical Genetics, 2020

Sotos syndrome associated with Hirschsprung's disease: a new case and exome-sequencing analysis.

Sio CA et al.

Pediatric 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."