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familial disease
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Genetic Markers
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NF1
PTCH1
BZX
TTR
CYP27A1
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Pathway Enrichment
Most Correlated Biogroups
regulation of nitrogen compound metabolic process
GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN
PILON_KLF1_TARGETS_DN
GSE19888_CTRL_VS_A3R_INHIBITOR_TREATED_MAST_CELL_DN
kidney development
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Familial multiple tumor syndrome
Mouse Phenotypes - Autosomal dominant hereditary disorder
Mouse Phenotypes - Neurofibromatosis
Mouse Phenotypes - Tay-Sachs disease
Early stages of mild and severe cardiac hypertrophy
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Literature
Most Relevant Literature
Defining the complex needs of families with rare diseases-the example of telomere biology disorders.
AutozygosityMapper: Identification of disease-mutations in consanguineous families.
Screening copy number variations in 35 unsolved inherited retinal disease families.
The needs of patients with noncancer diseases and their families from hospital-based specialized pal…
Measures for optimal access to psychosocial care of children with rare diseases and their families].
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Failure Time Methods for Family Disease Studies
Family Meeting Study for End Stage Renal Disease
Families Taking Control (FTC): Family-based Problem-solving Intervention for Children With Sickle Ce…
Clinical Investigation and Molecular Forms of Family Disease of Varicose
Children Affected by Rare Disease and Their Families Network
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