#hypomorphic - Twitter Hashtag

almost 2 years ago

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

pai_eaaci's tweet photo. 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 https://t.co/GWqkoUw87F

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Mónica Furlano MD, PhD @m_furlano

over 2 years ago

#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

m_furlano's tweet photo. #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 https://t.co/GjI7Q6cZgm

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ScienceOpen @Science_Open

almost 8 years ago

‘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

Science_Open's tweet photo. ‘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 https://t.co/pwivbu6p9w

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