학술논문

A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome.
Document Type
Letter to the Editor
Source
Clinical Genetics. Apr2018, Vol. 93 Issue 4, p929-930. 5p. 1 Color Photograph.
Subject
*MISSENSE mutation
*AMINO acids
Language
ISSN
0009-9163