Last Updated：2025/12/31
Sentence
As
the
field
of
rare
genetic
diseases
shifts
to
a
personalized
medicine
approach,
the
precise
definition
of
the
disease-causing
mutation,
together
with
targeted
genotypization
at
established
modifier
loci,
could
help
provide
prognostic
indications
to
patients
and
families,
and
fine-tune
standards
of
care
to
individual
patient
characteristics.
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As the field of rare genetic diseases shifts to a personalized medicine approach, the precise definition of the disease-causing mutation, together with targeted genotypization at established modifier loci, could help provide prognostic indications to patients and families, and fine-tune standards of care to individual patient characteristics.
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