Varaico: Literature-Extracted Genetic Variants

Gene:TLE6
Variant:p.A378fs
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TLE6

NM_001143986.2:p.A378fs

Associated Papers

Structural basis of the subcortical maternal complex and its implications in reproductive disorders.

Chi P et al.

Nature Structural & Molecular Biology, 2024

38177687 (PubMed )
Supplement: 41594_2023_1153_MOESM3_ESM.xlsx › Table_S1

A novel variant in TLE6 is associated with embryonic developmental arrest (EDA) in familial female infertility.

Akbari M et al.

Scientific Reports, 2022

Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development.

Liu J et al.

Journal of Assisted Reproduction and Genetics, 2021

Identification of Novel Biallelic TLE6 Variants in Female Infertility With Preimplantation Embryonic Lethality.

Zhang M et al.

Frontiers in Genetics, 2021

Novel mutations in genes encoding subcortical maternal complex proteins may cause human embryonic developmental arrest.

Wang X et al.

Reproductive Biomedicine Online, 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."