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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMPRSS4

Variant:p.M1_L2Splc

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TMPRSS4

NM_019894.4:p.M1_L2Splc

hg38:chr11:118087675 G>A

Associated Papers

SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis.

Bögershausen N et al.

Jci Insight, 2025

40131364 (PubMed )

Supplement: jciinsight-10-173484-s116.xlsx › Tabelle1

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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."