The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus ; volume:25 ; number:1 ; day:26 ; month:3 ; year:2024 ; pages:1-13 ; date:12.2024
The Egyptian journal of medical human genetics ; 25, Heft 1 (26.3.2024), 1-13, 12.2024

Creator: Sabzeghabaiean, Masoud
Maleknia, Mohsen
Mohammadi-Asl, Javad
Kazemi, Hashem
Golab, Fereshteh
Zargar, Zohreh
Naseroleslami, Maryam

Contributor: SpringerLink (Online service)

DOI: 10.1186/s43042-024-00513-6

URN: urn:nbn:de:101:1-2406121202127.968114813539

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:52 AM CEST

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Sabzeghabaiean, Masoud
Maleknia, Mohsen
Mohammadi-Asl, Javad
Kazemi, Hashem
Golab, Fereshteh
Zargar, Zohreh
Naseroleslami, Maryam
SpringerLink (Online service)

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The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus

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Other Objects (12)

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