Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Is there a genotype-phenotype correlation in primary hyperoxaluria type 1?
[primary hyperoxaluria type 1]
There
is
ongoing
debate
about
a
genotype-phenotype
correlation
in
patients
with
primary
hyperoxaluria
type
1
and
specific
AGXT
mutations
.
However
,
other
determinants
like
environmental
factors
or
modifer
genes
may
play
a
pivotal
role
in
the
heterogeneity
of
the
disease
.
The
report
of
Lorenzo
and
co
-workers
highlights
this
situation
,
presenting
data
of
a
whole
population
with
just
one
specific
AGXT
mutation
.