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Expanding the genotypic and phenotypic spectrum of EAST/SeSAME syndrome: identification of a novel homozygous mutation (c.194 G > A) in KCNJ10 gene |
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Title: |
Expanding the genotypic and phenotypic spectrum of EAST/SeSAME syndrome: identification of a novel homozygous mutation (c.194 G > A) in KCNJ10 gene |
Author: |
Yari, Abolfazl Dalvand, Leyla Moghaddam, Bahareh Esmaeili Khorasani, Nima Norouzi Esmaeili, Fatemeh Attari, Rezvan Gohari, Atieh Karimi Vafaeie, Farzane Jafarinejad-Farsangi, Saeideh Khoshnazar, Shivasadat Saeidi, Kolsoum |
Appeared in: |
Neurological sciences |
Paging: |
Volume 46 () nr. 2 pages 911-927 |
Year: |
2024-11-28 |
Contents: |
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Publisher: |
Springer International Publishing, Cham |
Source file: |
Elektronische Wetenschappelijke Tijdschriften |
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