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Springer Nature1
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✓Human Genetics1
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20251
Azmatullah results 1 · Newest (Page 1/1, per page 25)
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Journal: Human Genetics ×Author: Azmatullah ×Clear All Filters
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Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalitiesNARA Subscribed
Human Genetics · 2025 · Vol. 144 · Issue 1 · Springer
Naseebullah Kakar; Selinda Mascarenhas; Asmat Ali; Azmatullah; Syed M. Ijlal Haider; Vaishnavi Ashok Badiger; Mobina Shadman Ghofrani; Nathalie Kruse; Sohana Nadeem Hashmi; Jelena Pozojevic; Saranya Balachandran; Mathias Toft; Sajid Malik; Kristian Händler; Ambrin Fatima; Zafar Iqbal; Anju Shukla; Malte Spielmann; Periyasamy Radhakrishnan
Neuron navigators (NAVs) are cytoskeleton-associated proteins well known for their role in axonal guidance, neuronal migration, and neurite growth necessary for neurodevelopment. Neuron navigator 3 (NAV3) is one of the three NAV proteins highly expressed in the embryonic and adult brain. However, the role of the NAV3 gene in human disease is not well-studied. Recently, five bi-allelic and three mono-allelic variants in NAV3 we...
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