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2 patient data entries in database for mutations L304R and T251I.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
42L304R3
T251I
P587L2
PEO, myopathy, ataxia.
-movement disorder (ataxia)
-myopathy
-PEO
adult
4574n/aHorvath et al, 2006;

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43L304R3
T251I
P587L2
PEO, Neuropathy. Affect sibling.
-PEO
adult
6068n/aHorvath et al, 2006;

[view data]

1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

Number of displayed patient cases: 2
Avg age of onset in displayed cases: 52.5
Std dev in onset in displayed cases: 7.5

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Mutations:
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
Match: Inclusive Exact
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