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Biallelic variants in GLB1 causes GM1-gangliosidosis disease in a family with two siblings


Citation

Karuppiah, Thilakavathy and Ling, King Hwa and Lim, Chong Teik and Shankar, Aissvarya and Thong, Meow Keong and Abdul Aziz, Noraishah Mydin (2024) Biallelic variants in GLB1 causes GM1-gangliosidosis disease in a family with two siblings. In: 1st International Symposium and Workshop, Medical Genetics Update: From Genomics to Clinic, 16-18 May. 2024, Universitas YARSI, Indonesia. (pp. 98-99). (Submitted)

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Additional Metadata

Item Type: Conference or Workshop Item (Poster)
Divisions: Faculty of Medicine and Health Science
Keywords: GM1-gangliosidosis, Biallelic variants, GLB1
Depositing User: Mr. Mohamad Syahrul Nizam Md Ishak
Date Deposited: 09 Apr 2025 07:22
Last Modified: 09 Apr 2025 07:22
URI: http://psasir.upm.edu.my/id/eprint/116511
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