Varaico: Literature-Extracted Genetic Variants

Gene:KRT10
Variant:p.M150R
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KRT10

NM_000421.5:p.M150R

Associated Papers

Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis.

Yang Z et al.

Pediatric Investigation, 2023

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.

Arin MJ et al.

The British Journal of Dermatology, 2011

Disruption of the suprabasal keratin network by mutation M150T in the helix initiation motif of keratin 10 does not affect cornified cell envelope formation in human epidermis.

Akiyama M et al.

Experimental Dermatology, 2003

Identification of two novel mutations in keratin 13 as the cause of white sponge naevus.

Rugg E et al.

Oral Diseases, 1999

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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."