Varaico: Literature-Extracted Genetic Variants

Gene:ITCH
Variant:p.D394_P395insA
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ITCH

NM_031483.7:p.D394_P395insA

Associated Papers

Genetic disease amongst the Plain community.

Mascia KL

Current Opinion in Pediatrics, 2024

Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

Crowgey EL et al.

The Journal of Molecular Diagnostics : Jmd, 2019

31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel

Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.

Lohr NJ et al.

American Journal of Human Genetics, 2010

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