Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease.

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Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease.

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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2016年论文

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Prominent scapulae mimicking a ...... otype of CHD7-related disease.

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Prominent scapulae mimicking a ...... otype of CHD7-related disease.

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Prominent scapulae mimicking a ...... otype of CHD7-related disease.

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P1476

Prominent scapulae mimicking a ...... otype of CHD7-related disease.

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P2093

Alan Ma

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Conny Ma van Ravenswaaij-Arts

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Daniel G MacArthur

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Deborah Sival

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Gina L O'Grady

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Helen Young

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Leigh Waddell

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Manoj P Menezes

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Merrilee Needham

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Monica T Y Wong

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Mutation update on the CHD7 gene involved in CHARGE syndrome

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

MutationTaster evaluates disease-causing potential of sequence alterations

Activities at the Universal Protein Resource (UniProt)

P2888

ejhg.2015.276

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1216-1219

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scholarly article

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10.1038/EJHG.2015.276

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P433

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P478

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Kathryn North

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2016-01-27T00:00:00Z

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P6179

1042690033

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26813943

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4970689

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