Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.E918*
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RECQL4

NM_004260.4:p.E918*

Associated Papers

A retrospective single center analysis of fetuses with region of homozygosity detected by single nucleotide polymorphism array.

Bu X et al.

Scientific Reports, 2025

40253570 (PubMed )
Supplement: 41598_2025_98497_MOESM1_ESM.pdf

RECQL4-related Rothmund-Thomson syndrome: A case series and literature review.

Ho SKL et al.

Cancer Genetics, 2025

A Chinese patient with Rothmund-Thomson syndrome.

Zeng J et al.

Molecular Genetics & Genomic Medicine, 2024

Molecular Mechanisms of the RECQ4 Pathogenic Mutations.

Xu X et al.

Frontiers in Molecular Biosciences, 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."