Varaico: Literature-Extracted Genetic Variants

Gene:LRRC58
Variant:p.L142M
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LRRC58

NM_001099678.2:p.L142M

Associated Papers

A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage.

Liang M et al.

Molecular Genetics & Genomic Medicine, 2024

38400599 (PubMed )
Supplement: MGG3-12-e2402-s001.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1696.600
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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."