Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.V575delFs
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EXT1

NM_000127.3:p.V575delFs

Associated Papers

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Henn J et al.

Hereditary Cancer in Clinical Practice, 2019

30680046 (PubMed )
Supplement: 13053_2018_102_MOESM1_ESM.xlsx › Tabelle1

Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene.

Dobson-Stone C et al.

The Journal of Investigative Dermatology, 2002

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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."