Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1
Variant:p.Q68E
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HCFC1

NM_005334.3:p.Q68E

Associated Papers

A case of methylmalonic acidemia and homocysteinemia cblX type with negative tandem mass spectrometry testing.

Shen Y et al.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2021

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

Castro VL et al.

Medical Research Archives, 2020

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Redin C et al.

Journal of Medical Genetics, 2014

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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."