Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures (SMABF)

Alias:
Smabf
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures, also known as smabf, is related to spinal muscular atrophy and muscular atrophy. An important gene associated with Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures is ASCC1 (Activating Signal Cointegrator 1 Complex Subunit 1). Affiliated tissues include bone and heart.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Antenatal
<1/1000000
2
6
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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