Published December 8, 2021 | Version v2
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Clinical and genetic characteristics of COL2A1-associated skeletal dysplasias in 60 Russian patients

  • 1. Research Centre for Medical Genetics, Moskvorechye st., 1, Moscow, 115522, Russia
  • 2. H.Turner National Medical Research Center for Сhildren's Orthopedics and Trauma Surgery, Parkovaya 64-68, Saint-Petersburg, 196603, Pushkin, Russia

Description

Table1. Supplementary materials. Distribution of variants and characteristics of skeletal and extra-skeletal features in probands 
Table 2. Supplementary materials. Description of novel variants identified in the sample

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