Homo sapiens Variation. Homo sapiens
收藏NIAID Data Ecosystem2026-03-11 收录
下载链接：
https://www.ncbi.nlm.nih.gov/bioproject/PRJNA559970
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资源简介：
In the study, the main object was to identify the pertinent mutations/variations which are associated with short stature phenotype in an Iranian family. After selecting the family based on the germane phenotypes, and applying WES, we identified a novel variant in the CTSK gene. The physical assessments and medical evaluations confirmed pycnodysostosis regarding CTSK variant in this family.
创建时间：
2019-08-13
