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Deborah L Stabley

2PUBLICATIONS

6CO-AUTHORS

Neurology and neuromuscular diseasesGenomics

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Publications (2)

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|Jan 08, 2021

Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR.

Deborah L Stabley, Jennifer Holbrook, Mena Scavina

|Jun 06, 2020

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects.

Karen W Gripp, Laura Baker, Katherine M Robbins

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Frequent Collaborators

1 joint publications

Karen W Gripp

1 joint publications

Jennifer Holbrook

1 joint publications

Thomas O Crawford

1 joint publications

Kathryn J Swoboda

1 joint publications

Katherine M Robbins

1 joint publications

Matthew E R Butchbach

Frequent Collaborators

1 joint publications

Karen W Gripp

1 joint publications

Jennifer Holbrook

1 joint publications

Thomas O Crawford

1 joint publications

Kathryn J Swoboda

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