Varaico: Literature-Extracted Genetic Variants

Gene:PADI6
Variant:p.S508fs
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PADI6

NM_207421.4:p.S508fs

Associated Papers

Structural insight into the function of human peptidyl arginine deiminase 6.

Williams JPC et al.

Computational and Structural Biotechnology Journal, 2024

39286527 (PubMed )
Supplement: mmc3.xlsx › Fig_6B

PADI6: What we know about the elusive fifth member of the peptidyl arginine deiminase family.

Williams JPC et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023

Exonic genetic variants associated with unexpected fertilization failure and zygotic arrest after ICSI: a systematic review.

Torra-Massana M et al.

Zygote (cambridge, England), 2023

Genetic variants underlying developmental arrests in human preimplantation embryos.

Ozturk S

Molecular Human Reproduction, 2023

Novel biallelic mutations in PADI6 in patients with early embryonic arrest.

Dong J et al.

Journal of Human Genetics, 2022

Expanding the genetic and phenotypic spectrum of the subcortical maternal complex genes in recurrent preimplantation embryonic arrest.

Zheng W et al.

Clinical Genetics, 2021

New biallelic mutations in PADI6 cause recurrent preimplantation embryonic arrest characterized by direct cleavage.

Zheng W et al.

Journal of Assisted Reproduction and Genetics, 2020

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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."