The sequencing results of SEC24D mutaition
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https://www.ncbi.nlm.nih.gov/sra/SRP578579
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资源简介：
WES revealed a compound heterozygous variation in the SEC24D gene, consisting of two variants, i.e., c.938G>A (p. R313H) and c.2609_2610delGA (p. R870fs*10)
创建时间：
2025-04-17
