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PMID: 8162013
Imbeaud S, Carre-Eusebe D, Rey R, Belville C, Josso N, Picard JY
Molecular genetics of the persistent mullerian duct syndrome: a study of 19 families.
Hum Mol Genet. 1994 Jan;3(1):125-31.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
90
ABCC8 p.Ile49Ser
X
ABCC8 p.Ile49Ser 8162013:90:107
status:
NEW
view ABCC8 p.Ile49Ser details
:ii)2 Change atCpG no no no no no no yes no IK) no re no yes yes no no no r:> no Amino Acid Change V 1 2 G
I49S
L70P L84 G101 V G101 R123W Y K.7C • > !
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101
ABCC8 p.Ile49Ser
X
ABCC8 p.Ile49Ser 8162013:101:63
status:
NEW
view ABCC8 p.Ile49Ser details
The genotype shows the presence or absence of polymorphisms A (
I49S
), B (A1207G) and C (G413).
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