Varaico: Literature-Extracted Genetic Variants

Gene:CRTAC1
Variant:p.R153C
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CRTAC1

NM_018058.7:p.R153C

Associated Papers

Novel Genetic Variants Associated with Primary Myocardial Fibrosis in Sudden Cardiac Death Victims.

Skarp S et al.

Journal of Cardiovascular Translational Research, 2024

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.

Kim A et al.

Brain : a Journal of Neurology, 2019

30508070 (PubMed )
Supplement: awy290_supplementary_table_s1.pdf

iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Melguizo-Sanchis D et al.

Cell Death & Disease, 2018

29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA2_Deleterious_Hits
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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."