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My Rare Loss of Function Variants: Part 2 - Insertion-Deletions (Indels)

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  Insertion-Deletions (Indels) Indel  ( in sertion- del etion) is a molecular biology term for an  insertion  or  deletion  of  bases  in the  genome  of an organism. Indels ≥ 50 bases in length are classified as  structural variants . [1] [2] In  coding regions  of the genome, unless the length of an indel is a multiple of 3, it will produce a  frameshift mutation . For example, a common microindel which results in a frameshift causes  Bloom syndrome  in the Jewish or Japanese population. [3]  Indels can be contrasted with a  point mutation . An indel inserts or deletes nucleotides from a sequence, while a point mutation is a form of substitution that  replaces  one of the  nucleotides  without changing the overall number in the DNA. Indels can also be contrasted with Tandem Base Mutations (TBM), which may result from fundamentally different mechanisms. [4]  A TBM is defined as a substitution at adjacent nucleotides (primarily substitutions at two adjacent nucleotides, but substitutio

My Rare Loss of Function Variants: Part 1 - Single Nucleotide Variants (SNV's)

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This is a 2 Part Neurodivergence Blog Post on my rare Loss of Function Variants which have high impact. The link to part 2 is at the end of the Part 1 post. This will give good insight into the genetic makeup of a neurodivergent.  In my case, I am a neurodivergent with Dyslexia, Dyspraxia, ADHD.  I was in special education in my early years. I had auditory therapy, speech therapy, phonics training, and motor skills therapy to correct my Dyslexic and Dyspraxic weaknesses. I have never been treated for ADHD.  My Neurodivergence Testing https://neurodivergence.blogspot.com/2021/01/my-neurodivergence-testing.html The Connection Between My Overexcitabilities and Neurodivergent Conditions https://neurodivergence.blogspot.com/2021/01/the-connection-between-my.html My Life As A Neurodivergent  https://neurodivergence.blogspot.com/2023/11/my-life-as-neurodivergent .html Parental Questionnaire That My Mother Did In Regards To My Neurodivergence https://neurodivergence.blogspot.com/2022/06/parent

My Life As A Neurodivergent

  I just wanted to tell you what life for me as a Neurodivergent is like along  with some other things that I have. There are a lot of people like me  that are misunderstood. I want to show them that they are not alone.  We should support each other. Neurodivergents shouldn't put each other down. A lot of Neurodivergents have auditory processing problems. I didn't hear words correctly. Spoken words got jumbled up, and so I heard the words incorrectly. That's why I had speech problems. People had to slow down when they talked to me because they were speaking too fast for me. I couldn't sound out words, and so I had problems with reading. I easily forget things that I hear because I have poor short term auditory memory. I believe that Neurodivergents are highly sensitive. A lot of people with learning disabilities are highly sensitive. Sensory Integration Disorder is common in people with learning disabilities, ADHD/ADD, Asperger's Syndrome, and Autism. Well...I am hi