Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH2C
Variant:p.R145L
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RNASEH2C

NM_032193.4:p.R145L

Associated Papers

Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.

Zhang S et al.

Pediatric Investigation, 2024

RNASEH2C c.194G>A is a Chinese-specific founder mutation in three unrelated patients with Aicardi-Goutières syndrome 3.

Wang Q et al.

Clinical Genetics, 2023

[Clinical report and genetic analysis of a child with Aicardi-Goutières syndrome type 3 due to compound heterozygous variants of RNASEH2C gene].

Liu J et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023

Rare coding variants and breast cancer risk: evaluation of susceptibility Loci identified in genome-wide association studies.

Zhang Y et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2014

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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."