Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.E1035G
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BLM

NM_000057.4:p.E1035G

Associated Papers

Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients.

Jiang LX et al.

World Journal of Gastroenterology, 2023

Decoding Cancer Variants of Unknown Significance for Helicase-Nuclease-RPA Complexes Orchestrating DNA Repair During Transcription and Replication.

Tsutakawa SE et al.

Frontiers in Molecular Biosciences, 2021

34966786 (PubMed )
Supplement: Table3.XLSX › BLM_germline_VUS
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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."