Non-coding exons in the diagnosis of rare disorders

Genes are the coding part of the genome and represent only 2% of the entire DNA chain. Despite this, the vast majority of pathogenic mutations causing rare disorders (up to 85%) falls right in the genes.  Genes have a well-defined structure: they are made up of exons, which represent the coding part, alternate with introns, […]

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Amino acid codes (symbols)

Amino acids codes (symbols) are listed below (1 and 3 letters codes). Approved nomenclature for reports is the 3 letters code: Amino acid Code (1 letter) Code (3 letters) (official) Alanine A Ala Arginine R Arg Asparagine N Asn Aspartic Acid D Asp Cysteine C Cys Glutamic Acid E Glu Glutamine Q Gln Glicine G […]

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SIMMENS 2019 – Oct 2019, Turin (Italy)

Where: Turin (Italy)   When: 22-25 October 2019   Breda Genetics Booth: #19 Torino, prima Capitale, città universitaria e dell’innovazione industriale, è internazionalmente nota per la sua eleganza architettonica e vividezza culturale. Storica sede di gloriose società sportive e già città olimpica nel 2006, Torino diventerà anche capitale del tennis mondiale ospitando le prossime “ATP finals” dal 2021 […]

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