Varaico: Literature-Extracted Genetic Variants

Gene:PLCD1
Variant:p.L437L
Back to variants list

PLCD1

NM_006225.4:p.L437L

Associated Papers

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

Shen S et al.

Molecular Medicine Reports, 2021

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Mutation in Phospholipase C, δ1 (PLCD1) Gene Underlies Hereditary Leukonychia in a Pashtun Family and Review of the Literature.

Khan AK et al.

Balkan Journal of Medical Genetics : Bjmg, 2018

A novel mutation in the PLCD1 gene, which leads to an aberrant splicing event, underlies autosomal recessive leuconychia.

Farooq M et al.

The British Journal of Dermatology, 2012

Treatment of Hereditary Leukonychia with Intramatricial Triamcinolone: A Case Report.

Axler E et al.

Case Reports in Dermatology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."