Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.R962Splc
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RECQL4

NM_004260.4:p.R962Splc

Associated Papers

Landscape of pathogenic mutations in premature ovarian insufficiency.

Ke H et al.

Nature Medicine, 2023

36732629 (PubMed )
Supplement: 41591_2022_2194_MOESM2_ESM.xlsx › Supplementary_Table_9

[Analysis of RECQL4 gene variant in a child with Rothmund-Thomson syndrome].

Wu Q et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022

Novel pathogenic variants in the RECQL4 gene causing Rothmund-Thomson syndrome in three Chinese patients.

Zhang Y et al.

The Journal of Dermatology, 2021

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."