Associated Papers
Mitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced Dyskinesia (PED).
Nessler J et al.
Genes, 2020
Red cell adenylate kinase deficiency in India: identification of two novel missense mutations (c.71A>G and c.413G>A).
Dongerdiye R et al.
Journal of Clinical Pathology, 2019
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
25167861 (PubMed )
Supplement: jmedgenet-2014-102554-s1.pdf
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