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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LRPPRC

Variant:p.L528Splc

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LRPPRC

NM_133259.4:p.L528Splc

hg38:chr2:43960534 T>C

Associated Papers

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

Oláhová M et al.

Brain : a Journal of Neurology, 2015

26510951 (PubMed )

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