Novel mutations in the LRP5 gene in patients with osteoporosis pseudoglioma syndrome - short genetic pedigree. Homo sapiens isolate:Homo sapiens | breed:Homo sapiens | cultivar:Homo sapiens
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https://www.ncbi.nlm.nih.gov/bioproject/PRJNA666200
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资源简介：
The DNA sequencing analysis showed the presence of the c.1348C>T and c.3005G>A heterozygous variants. The family segregation analysis showed the c.1348C>T in the proband's mother and sister and the c.3005G>A variant in the father, thus confirming that the variants are in compound heterozygous state in the proband.
创建时间：
2020-09-28
