Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy : two case reports

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Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy : two case reports

Author: Kloth, Katja; Synofzik, Matthis; Kernstock, Christoph; Schimpf-Linzenbold, Simone; Schuettauf, Frank; Neu, Axel; Wissinger, Bernd; Weisschuh, Nicole
Tübinger Autor(en):
Kernstock, Christoph
Wissinger, Bernd
Weisschuh, Nicole
Synofzik, Matthis
Published in: Bmc Medical Genetics (2019), Bd. 20, Article 62
Verlagsangabe: Bmc
Language: English
Full text: http://dx.doi.org/10.1186/s12881-019-0795-x
ISSN: 1471-2350
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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