Varaico: Literature-Extracted Genetic Variants

Gene:SPTA1
Variant:p.E1470K
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SPTA1

NM_003126.4:p.E1470K

Associated Papers

Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.

Saponaro G et al.

Dermatopathology (basel, Switzerland), 2025

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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."