Varaico: Literature-Extracted Genetic Variants

Gene:TLE6
Variant:p.Q74H
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TLE6

NM_001143986.2:p.Q74H

Associated Papers

Exploring the role of non-canonical splice site variants in aberrant splicing associated with reproductive genetic disorders.

Zhou L et al.

Clinical Genetics, 2024

Cryo-EM structure of the human subcortical maternal complex and the associated discovery of infertility-associated variants.

Chi P et al.

Nature Structural & Molecular Biology, 2024

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

Genetic variants underlying developmental arrests in human preimplantation embryos.

Ozturk S

Molecular Human Reproduction, 2023

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

Akbari M et al.

Scientific Reports, 2022

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

Zhang M et al.

Frontiers in Genetics, 2021

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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."