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Genetic Markers of Spina Bifida: Enrichment of Pathogenic Variants and Variants of Uncertain Significance

Jyoti Sharma, Mahima Sharma, Sourabh Kumar, Himani Kaushik,Himani Pandey, Devi Lal,Vishesh Jain,Anjan Kumar Dhua,Devendra Kumar Yadav,Sandeep Agarwala,Prabudh Goel

Journal of Indian Association of Pediatric Surgeons（2025）

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Key words
neural tube defects,planar cell polarity,spina bifida,variant of uncertain significance,whole-exome sequencing,wnt signaling pathway
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