A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1432-1203

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation ; day:29 ; month:11 ; year:2022 ; pages:1-13
Human genetics ; (29.11.2022), 1-13

Creator: Frohne, Alexandra
Koenighofer, Martin
Cetin, Hakan
Nieratschker, Michael
Liu, David T.
Laccone, Franco
Neesen, Juergen
Nemec, Stefan F.
Schwarz-Nemec, Ursula
Schoefer, Christian
Avraham, Karen B.
Frei, Klemens
Grabmeier-Pfistershammer, Katharina
Kratzer, Bernhard
Schmetterer, Klaus
Pickl, Winfried F.
Parzefall, Thomas

Contributor: SpringerLink (Online service)

DOI: 10.1007/s00439-022-02506-0

URN: urn:nbn:de:101:1-2023020921290748006860

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

Last update: 14.08.2025, 10:46 AM CEST

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Associated

Frohne, Alexandra
Koenighofer, Martin
Cetin, Hakan
Nieratschker, Michael
Liu, David T.
Laccone, Franco
Neesen, Juergen
Nemec, Stefan F.
Schwarz-Nemec, Ursula
Schoefer, Christian
Avraham, Karen B.
Frei, Klemens
Grabmeier-Pfistershammer, Katharina
Kratzer, Bernhard
Schmetterer, Klaus
Pickl, Winfried F.
Parzefall, Thomas
SpringerLink (Online service)

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A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

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Other Objects (12)

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