Condition: Curly hair (finding)
rs121913348
in
BRAF
gene and
Curly hair (finding)
PMID 18413255
2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
rs397507547
in
PTPN11
gene and
Curly hair (finding)
PMID 11704759
2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
PMID 15834506
2005 Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.