"Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares et al., 2014)" turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations.
about
"Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares et al., 2014)" turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations.
description
2017 nî lūn-bûn
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2017年の論文
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name
"Exome sequencing identifies a ...... s caused by CARMIL2 mutations.
@en
"Exome sequencing identifies a ...... s caused by CARMIL2 mutations.
@nl
type
label
"Exome sequencing identifies a ...... s caused by CARMIL2 mutations.
@en
"Exome sequencing identifies a ...... s caused by CARMIL2 mutations.
@nl
prefLabel
"Exome sequencing identifies a ...... s caused by CARMIL2 mutations.
@en
"Exome sequencing identifies a ...... s caused by CARMIL2 mutations.
@nl
P2093
P1476
"Exome sequencing identifies a ...... s caused by CARMIL2 mutations.
@en
P2093
Heloísa B Pena
Magda Bahia
Maíra C M Freire
Raony G C C L Cardenas
Sergio D J Pena
P356
10.1016/J.EJMG.2017.02.002
P577
2017-02-20T00:00:00Z