Varaico: Literature-Extracted Genetic Variants

Gene:TLE6
Variant:p.K269delFs
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TLE6

NM_001143986.2:p.K269delFs

Associated Papers

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1

A novel TLE6 mutation, c.541+1G>A, identified using whole-exome sequencing in a Chinese family with female infertility.

Mao B et al.

Molecular Genetics & Genomic Medicine, 2021

A genomics approach to females with infertility and recurrent pregnancy loss.

Maddirevula S et al.

Human 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."