Varaico: Literature-Extracted Genetic Variants

Gene:CCSER1
Variant:p.K125R
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CCSER1

NM_001145065.2:p.K125R

Associated Papers

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

Kinjo K et al.

Scientific Reports, 2020

32620854 (PubMed )
Supplement: 41598_2020_67715_MOESM2_ESM.xlsx › Supplementary_Table_1

Genomic analysis identifies masqueraders of full-term cerebral palsy.

Takezawa Y et al.

Annals of Clinical and Translational Neurology, 2018

29761117 (PubMed )
Supplement: ACN3-5-538-s001.xlsx › Sheet1
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