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Articles published in Hum Mutat

Retrieve available abstracts of 8 articles:
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Single Articles


    August 2022
  1. RIUS R, Bennett NK, Bhattacharya K, Riley LG, et al
    Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.
    Hum Mutat. 2022 Aug 28. doi: 10.1002/humu.24453.
    PubMed     Abstract available


    July 2022
  2. TUCKER EJ, Gutfreund N, Belaud-Rotureau MA, Gilot D, et al
    Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.
    Hum Mutat. 2022 Jul 8. doi: 10.1002/humu.24432.
    PubMed     Abstract available


    May 2022
  3. DILERNIA D, Amin P, Flores J, Stecenko A, et al
    Mutation profiling of the c.1521_1523delCTT (p.Phe508del, F508del) cystic fibrosis transmembrane conductance regulator allele using haplotype-resolved long-read next generation sequencing.
    Hum Mutat. 2022;43:595-603.
    PubMed     Abstract available


    January 2022
  4. NATERA-DE BENITO D, Jurgens JA, Yeung A, Zaharieva IT, et al
    Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
    Hum Mutat. 2022 Jan 25. doi: 10.1002/humu.24333.
    PubMed     Abstract available


    September 2021
  5. NYKAMP K, Truty R, Riethmaier D, Wilkinson J, et al
    Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.
    Hum Mutat. 2021;42:1165-1172.
    PubMed     Abstract available


    August 2021
  6. RAJESHWARI M, Karthi S, Singh R, Efthymiou S, et al
    Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjogren-Larsson syndrome patients.
    Hum Mutat. 2021;42:1015-1029.
    PubMed     Abstract available


    June 2021
  7. SZAFRANSKI P, Gambin T, Karolak JA, Popek E, et al
    Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR.
    Hum Mutat. 2021;42:694-698.
    PubMed     Abstract available


    February 2021
  8. MORGAN A, Dipresa S, Turolla L, La Bianca M, et al
    A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease.
    Hum Mutat. 2021;42:213-215.
    PubMed    


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