Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy - Concepedia

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Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

DOI Full Paper Access

39

Citations

12

References

2020

Year

Thi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, Marcello Niceta, Giuseppe Zampino, Christophe Philippe, Sébastien Moutton, Maha S. Zaki, Kiely N. James, Damir Musaev,

The American Journal of Human Genetics

Neurodevelopmental SyndromeCerebellar AtrophyDevelopmental BiologyAllelic VariantMendelian DisorderGenetic DisorderGeneticsBi-allelic VariantsNeuroscienceMolecular NeurobiologyNeuropathologyMedicineNeurogenetics

References

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