Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.M187T
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NPHS2

NM_014625.4:p.M187T

Associated Papers

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks.

Zhao H et al.

Elife, 2014

25085081 (PubMed )
Supplement: elife02725s004.xlsx › Validation_results
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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."