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Division of Biology and Genetics (University of Brescia)

General information

Division of Biology and Genetics
University of Brescia
Viale Europa 11
Brescia
Lombardia
Italy - 25127
https://www.unibs.it/
Organization ID: 507568

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 21

Gene

GeneSubmissionsLast Updated
AEBP11Jan 28, 2021
ATP6V0A22Feb 4, 2021
B3GALT62Feb 4, 2021
B3GAT32Sep 24, 2020
B4GALT71Sep 24, 2020
COL1A21Mar 27, 2024
COL5A11Sep 24, 2020
GGCX2Jan 28, 2021
LOC1268598271Feb 16, 2021
LTBP41Sep 24, 2020
MAP3K71Aug 7, 2020
NBAS1May 21, 2020
PURA1Jun 23, 2020
PYCR12Feb 4, 2021
TAB21Feb 16, 2021
TNXB1Jan 29, 2021

Condition

NameSubmissionsLast Updated
Autosomal recessive cutis laxa type 2B2Feb 4, 2021
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency2Jan 28, 2021
Cardiospondylocarpofacial syndrome1Aug 7, 2020
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21Mar 27, 2024
Congenital heart defects, multiple types, 21Feb 16, 2021
Cutis laxa with osteodystrophy2Feb 4, 2021
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies1Sep 24, 2020
Ehlers-Danlos syndrome due to tenascin-X deficiency1Jan 29, 2021
Ehlers-Danlos syndrome progeroid type1Sep 24, 2020
Ehlers-Danlos syndrome, classic type1Sep 24, 2020
Ehlers-Danlos syndrome, classic type, 11Jan 28, 2021
Ehlers-Danlos syndrome, spondylodysplastic type, 22Feb 4, 2021
Ehlers-Danlos syndrome, type 41Apr 5, 2024
Infantile liver failure syndrome 21May 21, 2020
Larsen-like syndrome, B3GAT3 type2Sep 24, 2020
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1Jun 23, 2020
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome1May 21, 2020