Varaico: Literature-Extracted Genetic Variants

Gene:RTP1
Variant:p.Q130delFs
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RTP1

NM_153708.3:p.Q130delFs

Associated Papers

A POLG2 Homozygous Mutation in an Autosomal Recessive Epilepsy Family Without Ophthalmoplegia.

Lee SJ et al.

Journal of Clinical Neurology (seoul, Korea), 2019

31286721 (PubMed )
Supplement: jcn-15-418-s002.pdf

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D et al.

Nature, 2017

28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1
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