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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8698310
Species: Homo sapiens
RGD Object: Variant
Symbol: CV152414
Name: NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
Acc ID: HP:0030051
Term: Tip-toe gait
Definition: An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.
Definition Source(s): PMID:24757457, PMID:26709689
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
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