Varaico: Literature-Extracted Genetic Variants

Gene:KRT75
Variant:p.E337K
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KRT75

NM_004693.3:p.E337K

Associated Papers

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C

Correction of Hair Shaft Defects through Allele-Specific Silencing of Mutant Krt75.

Liu Y et al.

The Journal of Investigative Dermatology, 2016

Hair keratin mutations in tooth enamel increase dental decay risk.

Duverger O et al.

The Journal of Clinical Investigation, 2014

Is the loose anagen hair syndrome a keratin disorder? A clinical and molecular study.

Chapalain V et al.

Archives of Dermatology, 2002

Loose anagen hair syndrome: an underdiagnosed condition in males.

Pham CM et al.

Pediatric Dermatology, 0

Keratins as components of the enamel organic matrix.

Duverger O et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 0

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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."