Varaico: Literature-Extracted Genetic Variants

Gene:PLCD1
Variant:p.E455K
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PLCD1

NM_006225.4:p.E455K

Associated Papers

A Mosaic Hotspot PLCD1 Variant, Detectable in Blood-Derived DNA, Associated With Nevus Trichilemmocysticus.

de Kock L et al.

American Journal of Medical Genetics. Part A, 2025

Genotype-Phenotype Correlation in Trichilemmal Cysts.

Yousaf A et al.

The Journal of Investigative Dermatology, 2021

Hereditary Trichilemmal Cysts are Caused by Two Hits to the Same Copy of the Phospholipase C Delta 1 Gene (PLCD1).

Kolodney MS et al.

Scientific Reports, 2020

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