Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC3
Variant:p.V362A
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SPTLC3

NM_018327.4:p.V362A

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
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