Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti–Harel Syndrome.
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| Title: | Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti–Harel Syndrome. |
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| Authors: | Nakousi C., Nicole1 (AUTHOR), Nakousi M., Catalina2 (AUTHOR) cnakousim@uft.edu, Perez C., Gabriela3 (AUTHOR), Das, Sofia Priyadarsani (AUTHOR) das.sofia@gmail.com |
| Source: | Case Reports in Genetics. 10/27/2025, Vol. 2025, p1-6. 6p. |
| Database: | Academic Search Ultimate |
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