Varaico: Literature-Extracted Genetic Variants

Gene:KRT27
Variant:p.K282_S283Splc
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KRT27

NM_181537.4:p.K282_S283Splc

Associated Papers

Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.

Airoldi M et al.

Biomolecules, 2025

A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.

Ansar M et al.

Journal of Medical Genetics, 2015

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1696.600
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