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

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

Introduction: The genetic diversity of the population in India, shaped by its unique history of migrations and varied ethnic landscape, suggests the possibility of genetic profiles distinct from the western populations. Objective: The objective is to investigate the genetic basis of spina bifida in...

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Main Authors: Jyoti Sharma, Mahima Sharma, Sourabh Kumar, Himani Kaushik, Himani Pandey, Devi Lal, Vishesh Jain, Anjan Kumar Dhua, Devendra Kumar Yadav, Sandeep Agarwala, Prabudh Goel
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2025-03-01
Series:Journal of Indian Association of Pediatric Surgeons
Subjects:
neural tube defects
planar cell polarity
spina bifida
variant of uncertain significance
whole-exome sequencing
wnt signaling pathway
Online Access:https://journals.lww.com/10.4103/jiaps.jiaps_193_24
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