Varaico: Literature-Extracted Genetic Variants

Gene:TMEM82
Variant:p.L247R
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TMEM82

NM_001013641.3:p.L247R

Associated Papers

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Dong W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs

Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene.

Patowary A et al.

Translational Psychiatry, 2019

30664616 (PubMed )
Supplement: 41398_2018_343_MOESM3_ESM.xlsx › All_Variants
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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."