Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC1
Variant:p.G31D
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EXOSC1

NM_016046.5:p.G31D

Associated Papers

Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.

Zou W et al.

Journal of Assisted Reproduction and Genetics, 2024

Rapid diagnosis of Talaromyces marneffei infection by metagenomic next-generation sequencing technology in a Chinese cohort of inborn errors of immunity.

Liu L et al.

Frontiers in Cellular and Infection Microbiology, 2022

Mutation screening in 18 Caucasian families suggest the existence of other MODY genes.

Chèvre JC et al.

Diabetologia, 1998

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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."