Varaico: Literature-Extracted Genetic Variants

Gene:RIN2
Variant:p.M448I
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RIN2

NM_018993.4:p.M448I

Associated Papers

Alternative start codon selection shapes mitochondrial function and rare human diseases.

Ly J et al.

Molecular Cell, 2025

41205602 (PubMed )
Supplement: NIHMS2117943-supplement-MMMC6.xlsx › SupplementalTableS5

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 115.81
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."