Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing

Alina Kurolap, Adi Mory, Sharon Simchoni, Karina Krajden Haratz, Gustavo Malinger, Roee Birnbaum, Hagit Baris Feldman, Yuval Yaron*

*Corresponding author for this work

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Medicine and Dentistry

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Biochemistry, Genetics and Molecular Biology