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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM167A

Variant:p.I4_L11del8

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TMEM167A

NM_174909.5:p.I4_L11del8

hg38:chr5:83065086 GTCAATAGACTCTGAAAATTGAAAA>G

Associated Papers

Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome.

Virgilio E et al.

The Journal of Clinical Investigation, 2025

40924476 (PubMed )

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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."