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5q13.2 heterozygous deletion (SMN1/SMN2) verified by MLPA

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NIAID Data Ecosystem2026-03-12 收录
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https://figshare.com/articles/dataset/5q13_2_heterozygous_deletion_SMN1_SMN2_verified_by_MLPA/14423438
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资源简介:
Capillary electrophoresis pattern of a proband A, proband B and their mother (1x SMN1; 1x SMN2) analysed with SALSA MLPA probemix P060 SMA Carrier. The approximately 50% decrease of peaks SMN1-7 (SMN1, exon 7), SMN1-8 (SMN1, exon 8), SMN2-7 (SMN2, exon7), SMN2-8 (SMN2, exon 8) was detected. Capillary electrophoresis pattern of negative control is attached.
创建时间:
2021-07-09
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