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May 10, 2024Human GenomicsOpen Access

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India

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Authors

HSHarsh ShethANAadhira NairRBRiddhi Bhavsar

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Sheth et al. (2024) studied this question.

synapsesocial.com/papers/68e6ab1eb6db64358762d3d8https://doi.org/10.1186/s40246-024-00613-9
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C2016 · 11 citations
  2. 2A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases2021 · 8 citations
  3. 3Lysosomal storage disorders identified in adult population from India : Experience of a tertiary genetic centre and review of literature2024 · 7 citations