Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.G147S
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DHCR7

NM_001360.3:p.G147S

Associated Papers

Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.

Drexler KA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.

Vora NL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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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."