Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.E36Q
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SQSTM1

NM_003900.5:p.E36Q

Associated Papers

Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy.

Simkin D et al.

Elife, 2021

33544076 (PubMed )
Supplement: elife-64434-supp3.xlsx › DP20.Q204par3_IsQ204.AllDiffere

Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.

Vidmar L et al.

Scientific Reports, 2019

31235738 (PubMed )
Supplement: 41598_2019_45598_MOESM2_ESM.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."