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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:P4HTM

Variant:p.Q247delFs

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P4HTM

NM_177939.3:p.Q247delFs

hg38:chr3:49004112 CA>C

Associated Papers

Biallelic Mutations in P4HTM Cause Syndromic Obesity.

Saeed S et al.

Diabetes, 2023

37083980 (PubMed )

Supplement: EMS203462-supplement-Supplementary_Material.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."