A further case of AFG2B-related neurodevelopmental disorder with hearing loss and microcephaly allows further clarification of pathogenicity of the variant c.1313T>C, p.(Leu438Pro)

Grosch, Sarah; Kehrer, Martin; Riess, Olaf; Bevot, Andrea; Haack, Tobias B.

dc.contributor.author	Grosch, Sarah
dc.contributor.author	Kehrer, Martin
dc.contributor.author	Bevot, Andrea
dc.contributor.author	Rieß, Olaf
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2024-08-12T05:54:30Z
dc.date.available	2024-08-12T05:54:30Z
dc.date.issued	2024
dc.identifier.issn	2324-9269
dc.identifier.uri	http://hdl.handle.net/10900/156526
dc.language.iso	en	de_DE
dc.publisher	Hoboken : Wiley	de_DE
dc.relation.uri	http://dx.doi.org/10.1002/mgg3.2310	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	A further case of AFG2B-related neurodevelopmental disorder with hearing loss and microcephaly allows further clarification of pathogenicity of the variant c.1313T>C, p.(Leu438Pro)	de_DE
dc.type	Article	de_DE
utue.quellen.id	20240422000000_01368
utue.personen.roh	Grosch, Sarah
utue.personen.roh	Kehrer, Martin
utue.personen.roh	Riess, Olaf
utue.personen.roh	Bevot, Andrea
utue.personen.roh	Haack, Tobias B.
dcterms.isPartOf.ZSTitelID	Molecular Genetics & Genomic Medicine	de_DE
dcterms.isPartOf.ZS-Issue	Article e2310	de_DE
dcterms.isPartOf.ZS-Volume	12 (1)	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE