Varaico: Literature-Extracted Genetic Variants

Gene:PCMTD1
Variant:p.R335T
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PCMTD1

NM_052937.4:p.R335T

Associated Papers

A Damaging COL6A3 Variant Alters the MIR31HG-Regulated Response of Chondrocytes in Neocartilage Organoids to Hyperphysiologic Mechanical Loading.

Bloks NG et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024

39021299 (PubMed )
Supplement: ADVS-11-2400720-s001.xlsx › S1

Whole Exome Sequencing Identifies a Novel Hedgehog-Interacting Protein G516R Mutation in Locally Advanced Papillary Thyroid Cancer.

Lee WK et al.

International Journal of Molecular Sciences, 2018

30241415 (PubMed )
Supplement: ijms-19-02867-s001.zip › ijms-347887-for_final_check-Supplementary_Material.pdf
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