Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy.

Journal Information

Full Title: Mol Genet Metab Rep

Abbreviation: Mol Genet Metab Rep

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics & Heredity

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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3/6
50.0% Transparent
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Evidence found in paper:

"Declaration of Competing Interest None."

Evidence found in paper:

"The authors would like to thank the patient and her family in participating to this work. This work is primarily supported by the Intramural Research Programs of 10.13039/100000051National Human Genome Research Institute and National Institute of Child Health and Disease from the National Institutions of Health. We also would like to thank Dr. Thomas Markello for his invaluable assistance in analyzing the genetic results from this patient."

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Last Updated: Aug 05, 2025