Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1
Variant:p.A897V
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HCFC1

NM_005334.3:p.A897V

Associated Papers

O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.

Mayfield JM et al.

The Journal of Biological Chemistry, 2024

The role of HCFC1 in syndromic and non-syndromic intellectual disability.

Castro VL et al.

Medical Research Archives, 2020

A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.

Koufaris C et al.

Biomedical Reports, 2016

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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."