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82071264

Funded outputs count: 5
Funder award ID: 82071264
OpenAlex ID: G7621621751
Clinical characterization and structural modeling of a novel de novo SPTBN1 missense variant in a Chinese child
2026 · Junyu Wang, Junyu Wang, et al. · BMC Pediatrics
Clinical characterization of SPTBN1, SPTBN2, and SPTBN5 variants: A case series and systematic review
2026 · Jihang Luo, Ting Wang, et al. · Seizure
Spatial lipidomics reveals altered lipid profiles in TMEM63A mutant rats with hypomyelination
2025 · Junyu Wang, Junyu Wang, et al. · Scientific Reports · 1
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The recurrent mutation in RNF220 also causes hypomyelination in China and is a CpG hot spot
2022 · Huifang Yan, Thomas Kubisiak, et al. · Brain · 3
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Identification of novel ATRX mutations in Chinese patients with ATRX syndrome related intellectual disability/developmental delay
2022 · Junyu Wang, Huifang Yan, et al. · Research Square
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