Varaico: Literature-Extracted Genetic Variants

Gene:JMJD1C
Variant:p.Q1248R
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JMJD1C

NM_032776.3:p.Q1248R

Associated Papers

Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing.

Tous C et al.

International Journal of Molecular Sciences, 2023

Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.

Sáez MA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

26181491 (PubMed )
Supplement: gim2015100x1.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."