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Institut für Humangenetik der Universitätsmedizin Göttingen Institut für Humangenetik der Universitätsmedizin Göttingen
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Monthly Archive for: "March, 2023"
Home » Archiv für March 2023
By KB
In News, Research
Posted 23. March 2023

Biallelic truncating variants in FILIP1 identified as cause of novel arthrogryposis phenotype with microcephaly

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By KB
In Gene of the Month
Posted 1. March 2023

Gene of the Month – February: HMGB1

Specific heterozygous variants in HMGB1 cause an extremely rare congenital disorder, called BPTAS, which is characterized mainly by limb malformations including smaller-than-normal or extra [...]

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Institut für Humangenetik
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