Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.S1093Splc
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IQSEC2

NM_001111125.3:p.S1093Splc

Associated Papers

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30206421 (PubMed )
Supplement: 41436_2018_268_MOESM4_ESM.xlsx › Table_S2
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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."