Accession | SAMC2541529 |
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Accession in Other Database | GSA-Human: HRS797726 |
Sample name | S3-22B01277462 |
Title | Peripheral blood cell of S3-22B01277462 |
Sample type | Human sample |
Organism | Homo sapiens |
Description | The proband |
Attributes | *This sample record contains additional controlled-access information that is avaiable from GSA-Human by requesting study HRA004334 in the GSA-Human system. |
Release date | 2023-06-16 |
BioProject Accession | PRJCA013814 |
Submitter | Minyue Dong (dongmy@zju.edu.cn) |
Organization | Women's hospital, School of Medicine, Zhejiang University |
Submission date | 2023-06-18 |
Resource name | Description |
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GSA-Human (1) | - |
HRA004334 (Controlled Access) | Herein, compound heterozygous mutations of LAMA2: c.1693C>T (maternally inherited) and c.9212-6T>G (paternally inherited) were identified in a Chinese girl diagnosed as LGMD23. |