Top Tweets for #Hypomorphic
Have you heard about the #clinicalletter “Diffuse alveolar #hemorrhage as the initial presentation of #hypomorphic #RAG1 deficiency” in the #PAI_Journal?
We are opening a free discussion in this post, on our Instagram account. Comments are welcomed!
🔗 https://t.co/VoUD1MQ0yH
#Genetic session #ERA24:
Emerging concepts by Dr Peter Harris
🧬#Hypomorphic describes a mutation that causes a partial loss of gene function.
🧐The phenotype of a #hypomorph is more severe in trans to a deletion allele than when homozygous
#ADPKD #ARPKD #PKD #PQRAD #GTERH
‘Extremely #hypomorphic and severe deep #intronic variants in the ABCA4 locus result in varying #Stargardt disease #phenotypes’, an #openaccess article in the #ScienceOpen collection ‘#Molecular Case Studies’ @molcasestud by Cold Spring Harbor:
https://t.co/csf1mY7f3q
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