Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC6
Variant:p.R7insFs
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EXOSC6

NM_058219.3:p.R7insFs

Associated Papers

Phenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations.

Tian L et al.

Investigative Ophthalmology & Visual Science, 2022

Analysis of Chromosomal Copy Number in First-Trimester Pregnancy Loss Using Next-Generation Sequencing.

Fan L et al.

Frontiers in Genetics, 2020

Application of Next-Generation Sequencing for Genetic Diagnosis in Neonatal Intensive Care Units: Results of a Multicenter Study in China.

Zhu T et al.

Frontiers in Genetics, 2020

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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."