1. Jun 18, 2021

    Genetic analysis explores phenotypic differences in ALGS

    No phenotypic differences were found in patients with Alagille syndrome (ALGS) with a truncating, non-truncating, or structural JAG1 variant, according to data from the largest comprehensive genetic analysis of individuals with ALGS presented at the 6th World Congress of Paediatric Gastroenterology, Hepatology and Nutrition.

    In this international, m…

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Conference Roundup

  1. Jun 18, 2021

Genetic analysis explores phenotypic differences in ALGS

No phenotypic differences were found in patients with Alagille syndrome (ALGS) with a truncating, non-truncating, or structural JAG1 variant, according to data from the largest comprehensive genetic analysis of individuals with ALGS presented at the 6th World Congress of Paediatric…

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Journal Scan

  1. Jun 15, 2021

Better education on rare diseases needed for future healthcare professionals

Although most nursing, physiotherapy, and medical students said they had heard of the term “rare disease” most were not able to identify the most common causes or prevalence rates, according to a study to assess the awareness of rare diseases among future healthcare…

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