Varaico: Literature-Extracted Genetic Variants

Gene:MTSS2
Variant:p.L699V
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MTSS2

NM_138383.3:p.L699V

Associated Papers

Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia.

Hedberg-Oldfors C et al.

European Journal of Human Genetics : Ejhg, 2023

36935417 (PubMed )
Supplement: 41431_2023_1327_MOESM1_ESM.docx
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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."