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Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.
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34980881 (PubMed )
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Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.
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Plos One, 2021
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Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
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Oncotarget, 2017
29285300 (PubMed )
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Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
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Oncotarget, 2016
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Supplement: oncotarget-07-77163-s002.xlsx › Patient_2_late_met_1
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
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Plos One, 2015
25905921 (PubMed )
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Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma.
Parry M et al.
Plos One, 2013
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