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A Novel Biallelic Splice Site Variant in the SPARC Gene Causing Severe Osteogenesis Imperfecta.
Agnes Selina
Deeptiman James
Vrisha Madhuri
Published in:
Indian journal of pediatrics (2023)
Keyphrases
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intellectual disability
copy number
genome wide
early onset
genome wide identification
autism spectrum disorder
dna methylation
transcription factor
bone regeneration
gene expression
drug induced