Accepted at 6:53 p.m. Oct, 31, 2023 by Alex
Author: iolknjlk
Related Note: 1467927163875
Rationale for change

Tay-Sachs is a frameshift mutation, not splice site mutation

First Aid 2022 P.38

Extra Extra
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One hematological pathology that is due to abnormal splicing variants is {{c1::β-thalassemia}}
Lecture Notes
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Missed Questions
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Pathoma
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Boards and Beyond
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First Aid

Sketchy
Sketchy 2
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Sketchy Extra
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Picmonic
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Pixorize
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Physeo
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Bootcamp
Watch associated Bootcamp video - Microcytic Anemia: β-Thalassemia
OME

Additional Resources
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#AK_Step1_v12::#OME_banner #AK_Step1_v12::#SketchyPath::09_Blood_&_Coagulation::01_Microcytic_Anemias::01_Microcytic_Anemia_Overview_&_Thalassemias #AK_Step1_v12::#B&B::06_Cell_Bio::01_Molecular::04_Transcription #AK_Step1_v12::^Other::^EXPN::BGedit #AK_Step1_v12::^Systems::Biochem::Molecular #AK_Step1_v12::#AMBOSS::8UaOUP #AK_Step1_v12::^Other::^HighYield::1-HighYield #AK_Step1_v12::#UWorld::Step::1940 !AK_UpdateTags::Step1decks::Zanki-Step-Decks::Zanki-Biochemistry::Molecular,Cellular,Genetics #AK_Step1_v12::#FirstAid::01_Biochem::01_Molecular::14_Introns_vs_exons::*Alternative_Splicing #AK_Step1_v12::#Bootcamp::Hematology_and_Oncology::03_Microcytic_Anemia::09_β_Thalassemia #AK_Step1_v12::#UWorld::COMLEX::25049 #AK_Original_Decks::Step_1::Zanki_Step_Decks::Zanki_Biochemistry::Molecular,_Cellular,_Genetics #AK_Step1_v12::#SketchyPath::09_Blood_&_Coagulation::01_Microcytic_Anemias::02_Iron_Deficiency_Anemia_&_Anemia_of_Chronic_Disease #AK_Step1_v12::^Other::^FA_Updates::FA2018