Varaico: Literature-Extracted Genetic Variants

Gene:RECQL5
Variant:p.M1insFs
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RECQL5

NM_004259.7:p.M1insFs

Associated Papers

Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development.

Jin HJ et al.

Elife, 2023

38126872 (PubMed )
Supplement: elife-92769-fig2-data1.zip › Figure_2-source_data_1 › Figure_2-source_data_1 › Figure_2-source_data_1.xlsx › Table

A de novo mutation of ADAMTS8 in a patient with Wiedemann-Steiner syndrome.

Wang S et al.

Molecular Cytogenetics, 2023

37649104 (PubMed )
Supplement: 13039_2023_654_MOESM1_ESM.xlsx › Sheet1

Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.

Miao M et al.

Bmc Medical Genomics, 2022

35831859 (PubMed )
Supplement: 12920_2022_1311_MOESM1_ESM.xls › filtered_data
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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."