Varaico: Literature-Extracted Genetic Variants

Gene:CATSPERE
Variant:p.T798_A800del0
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CATSPERE

NM_001130957.2:p.T798_A800del0

Associated Papers

Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer's disease.

Bhattarai P et al.

Acta Neuropathologica, 2024

38598053 (PubMed )
Supplement: 401_2024_2721_MOESM5_ESM.xlsx › S_Table_1

Human fertilization in vivo and in vitro requires the CatSper channel to initiate sperm hyperactivation.

Young S et al.

The Journal of Clinical Investigation, 2024

Homozygous in-frame deletion in CATSPERE in a man producing spermatozoa with loss of CatSper function and compromised fertilizing capacity.

Brown SG et al.

Human Reproduction (oxford, England), 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."