Varaico: Literature-Extracted Genetic Variants

Gene:RPL13
Variant:p.R183C
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RPL13

NM_000977.4:p.R183C

Associated Papers

Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.

Wang R et al.

British Journal of Haematology, 2015

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