Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion
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Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion
description
scientific article published on 26 November 2019
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name
Whole exome sequencing identif ...... nd mitochondrial DNA depletion
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type
label
Whole exome sequencing identif ...... nd mitochondrial DNA depletion
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prefLabel
Whole exome sequencing identif ...... nd mitochondrial DNA depletion
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P2093
P1476
Whole exome sequencing identif ...... nd mitochondrial DNA depletion
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P2093
Alexandra Mosejova
Andrzej Dubiel
Anna Karlowicz
Katarzyna Tońska
Magdalena Kaliszewska
Malgorzata Rydzanicz
Matej Skorvanek
Miriam Skirkova
Petra Dosekova
Rafal Ploski
P304
P356
10.1016/J.EJMG.2019.103821
P577
2019-11-26T00:00:00Z