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A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome
Author(s) -
Miyake N.,
Ozasa S.,
Mabe H.,
Kimura S.,
Shiina M.,
Imagawa E.,
Miyatake S.,
Nakashima M.,
Mizuguchi T.,
Takata A.,
Ogata K.,
Matsumoto N.
Publication year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13105
Subject(s) - missense mutation , mutation , genetics , amino acid substitution , biology , gene
A novel causative variant (c. 608G >A, p. Arg203Gln ) in PACS1