Whole-exome sequencing of a patient with congenital liver fibrosis
收藏NIAID Data Ecosystem2026-05-02 收录
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https://www.ncbi.nlm.nih.gov/sra/SRP446431
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资源简介：
In our patient, whole-exome sequencing identified two heterozygous missense variants c.3860T>G (p. V1287G) and c.9059T>C (p. L3020P) in PKHD1 gene.
创建时间：
2024-09-18
