Varaico: Literature-Extracted Genetic Variants

Gene:PLCD1
Variant:p.E462K
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PLCD1

NM_006225.4:p.E462K

Associated Papers

Identification of a novel homozygous missense mutation in the Phospholipase C, delta-1 gene associated with leukonychia in a Middle Eastern patient.

Conway J et al.

Jaad Case Reports, 2024

One recurrent heterozygous mutation of the PLCD1 gene in a Chinese family with hereditary leukonychia: A case report and genotype-phenotype correlation analysis.

Zhang F et al.

The Journal of Dermatology, 2023

Identification of two novel mutations in the PLCD1 gene in Chinese patients with hereditary leukonychia.

Shen S et al.

Molecular Medicine Reports, 2021

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