Varaico: Literature-Extracted Genetic Variants

Gene:MGLL
Variant:p.E94K
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MGLL

NM_007283.7:p.E94K

Associated Papers

Mutation profiling in eight cases of vagal paragangliomas.

Kudryavtseva AV et al.

Bmc Medical Genomics, 2020

32948195 (PubMed )
Supplement: 12920_2020_763_MOESM1_ESM.xls › Pat4

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein.

Schaeffer C et al.

Scientific Reports, 2019

31406136 (PubMed )
Supplement: 41598_2019_48014_MOESM1_ESM.pdf

Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans.

Smith DR et al.

Plos One, 2017

29145497 (PubMed )
Supplement: pone.0187926.s005.xlsx › Sheet1
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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."