Varaico: Literature-Extracted Genetic Variants

Gene:SMCHD1
Variant:p.D398N
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SMCHD1

NM_015295.3:p.D398N

Associated Papers

Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing.

Bando H et al.

Frontiers in Endocrinology, 2022

Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency.

Kinjo K et al.

Scientific Reports, 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."