Varaico: Literature-Extracted Genetic Variants

Gene:TSPYL1
Variant:p.E153fs
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TSPYL1

NM_003309.4:p.E153fs

Associated Papers

Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.

Mazel B et al.

American Journal of Medical Genetics. Part A, 2022

Variants in TSPYL1 are not associated with sudden infant death syndrome in a cohort of deceased infants from Switzerland.

Schubert S et al.

Molecular and Cellular Probes, 2015

Should TSPYL1 mutation screening be included in routine diagnostics of male idiopathic infertility?

Javaher P et al.

Fertility and Sterility, 2012

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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."