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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCYT1A

Variant:p.D134delFs

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PCYT1A

NM_001312673.2:p.D134delFs

hg38:chr3:196247452 TC>T

Associated Papers

Endoplasmic reticulum stress and muscle dysfunction in congenital lipodystrophies.

Araújo de Melo Campos JT et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021

33713793 (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."