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)

Author:

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

Tübinger Autor(en):

Published in:

Molecular Genetics & Genomic Medicine (2024), Bd. 12 (1), Article e2310

Verlagsangabe:

Hoboken : Wiley

Language:

English

Full text:

ISSN:

2324-9269

DDC Classifikation:

570 - Life sciences; biology
610 - Medicine and health

Dokumentart:

Article

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