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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MS4A4E

Variant:p.T129M

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MS4A4E

NM_001393391.1:p.T129M

hg38:chr11:60208690 G>A

Associated Papers

Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome.

Bonde LD et al.

Journal of Human Genetics, 2025

39501122 (PubMed )

Supplement: 10038_2024_1301_MOESM1_ESM.pdf

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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."