Varaico: Literature-Extracted Genetic Variants

Gene:PADI3
Variant:p.P605T
Back to variants list

PADI3

NM_016233.2:p.P605T

Associated Papers

Deimination in epidermal barrier and hair formation.

Méchin MC et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_variants

Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.

Basmanav FB et al.

Jama Dermatology, 2022

Uncombable hair syndrome and beyond.

Alsabbagh MM

Acta Dermatovenerologica Alpina, Pannonica, Et Adriatica, 2022

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.

Ü Basmanav FB et al.

American Journal of Human Genetics, 2016

[Association of an uncombable hair syndrome and Wilson's disease].

Gonin J et al.

Annales De Pediatrie, 1984

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."