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17q12 duplication
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Both 17q12 duplication and deletion detected in the patient with normal phenotype and their segregation in family with variably affected members
2020 |
2. lékařská fakulta
publication
A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation
2023 |
2. lékařská fakulta
publication
Choledochal Cyst with 17q12 Chromosomal Duplication
2018 |
2. lékařská fakulta