Varaico: Literature-Extracted Genetic Variants

Gene:RBBP6
Variant:p.S363P
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RBBP6

NM_006910.5:p.S363P

Associated Papers

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.

Tábara LC et al.

Brain : a Journal of Neurology, 2022

35718349 (PubMed )
Supplement: awac123_supplementary_data.zip › brain-2021-01369-File006.pdf
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