Additional file 4 of Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India

Figshare2024-08-15 更新2026-04-08 收录

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https://springernature.figshare.com/articles/dataset/Additional_file_4_of_Development_validation_and_application_of_single_molecule_molecular_inversion_probe_based_novel_integrated_genetic_screening_method_for_29_common_lysosomal_storage_disorders_in_India/26718891/1 数据链接链接失效反馈

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Additional file 4. Clinical data and biochemical assay results of 187 patients with prior biochemical diagnosis of LSD in the diagnostic yield cohort.

提供机构：

Devi, Radha Rama; Solanki, Dhaval; Kadam, Sandeep; Prajapati, Ashka; Shah, Raju C.; Mehta, Sanjeev; Mane, Shrikant; Prabha, C. Ratna; Kamate, Mahesh; Jagadeesan, Sujatha; Gandhi, Ajit; Dalal, Ashwin; Nair, Aadhira; Magar, Suvarna; Kale, Shrutikaa; Muranjan, Mamta; Panigrahi, Inusha; Jalan, Anil; Nampoothiri, Sheela; Kaur, Anupriya; Gowda, Vykuntaraju K.; Sheth, Harsh; Kapoor, Seema; Gupta, Neerja; Bhavsar, Riddhi; Puri, Ratna; Luhar, Zulfiqar; Joshi, Chaitanya G.; Bavdekar, Ashish; Joshi, Madhvi; Bajaj, Shruti; Sheth, Frenny; Bijarnia, Sunita; Iyer, Anand; Shah, Ami; Sheth, Jayesh; Shah, Siddharth; Godbole, Koumudi; Tayade, Naresh; Patel, Harsh; Suresh, Indrani; Sowani, Ajit

创建时间：

2024-08-15

Additional file 4 of 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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