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Results 1 - 10 of 23 for Intermediate phenotype
  1. SLC26A2 gene 
    ... heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. Am ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  2. SMPD1 gene 
    ... Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. J Pediatr. 2006 Oct; ...
    https://medlineplus.gov/genetics/gene/smpd1 - Genetics
  3. NLRP3 gene 
    ... Novel mutation in the NRLP3 manifesting as an intermediate phenotype of cryopyrinopathies. Rheumatol Int. 2021 Jan;41(1): ...
    https://medlineplus.gov/genetics/gene/nlrp3 - Genetics
  4. PLEC gene 
    ... PCN PLEC1 PLEC1_HUMAN plectin 1 plectin 1, intermediate filament binding protein 500kDa Plectin-11 PLTN ... E, Lacour JP, Meneguzzi G. Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. Br J Dermatol. 2013 Apr; ...
    https://medlineplus.gov/genetics/gene/plec - Genetics
  5. DSP gene 
    ... Kelsell DP. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair ...
    https://medlineplus.gov/genetics/gene/dsp - Genetics
  6. PKP2 gene 
    ... Taffet S, Delmar M. Characterization of the molecular phenotype of two arrhythmogenic right ventricular cardiomyopathy (ARVC)-related ...
    https://medlineplus.gov/genetics/gene/pkp2 - Genetics
  7. JUP gene 
    ... C, Panagiotakos D, McKenna W, Toutouzas P. Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy ( ...
    https://medlineplus.gov/genetics/gene/jup - Genetics
  8. KRT5 gene 
    ... the KRT14 gene), to form molecules called keratin intermediate filaments. These filaments assemble into strong networks that ... underlying layers of skin. The network of keratin intermediate filaments provides strength and resiliency to the skin ...
    https://medlineplus.gov/genetics/gene/krt5 - Genetics
  9. KRT14 gene 
    ... the KRT5 gene), to form molecules called keratin intermediate filaments. These filaments assemble into strong networks that ... underlying layers of skin. The network of keratin intermediate filaments provides strength and resiliency to the skin ...
    https://medlineplus.gov/genetics/gene/krt14 - Genetics
  10. KRT17 gene 
    ... protein, keratin 6b, to form molecules called keratin intermediate filaments. These filaments assemble into dense networks that ... skin, nails, and other tissues. Networks of keratin intermediate filaments protect these tissues from being damaged by ...
    https://medlineplus.gov/genetics/gene/krt17 - Genetics
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