Attention Should be Drawn to Rare Diseases and Interpretation of Sequence Variants.

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A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease.

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Attention Should be Drawn to Rare Diseases and Interpretation of Sequence Variants.

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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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Attention Should be Drawn to Rare Diseases and Interpretation of Sequence Variants.

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Attention Should be Drawn to Rare Diseases and Interpretation of Sequence Variants.

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Attention Should be Drawn to Rare Diseases and Interpretation of Sequence Variants.

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Attention Should be Drawn to Rare Diseases and Interpretation of Sequence Variants.

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Attention Should be Drawn to Rare Diseases and Interpretation of Sequence Variants.

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Attention Should be Drawn to Rare Diseases and Interpretation of Sequence Variants.

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P1476

Attention Should be Drawn to Rare Diseases and Interpretation of Sequence Variants.

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P2093

Bei-Sha Tang

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Guidelines for investigating causality of sequence variants in human disease

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients

Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients.

Diagnostic clinical genome and exome sequencing.

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1009-1010

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scholarly article

editorial

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10.4103/0366-6999.180531

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English

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129

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2016-01-01T00:00:00Z

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27098782

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rare disease

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4852664

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Attention Should be Drawn to Rare Diseases and Interpretation of Sequence Variants.

about

P2860

P2860

Attention Should be Drawn to Rare Diseases and Interpretation of Sequence Variants.

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P1433

P1476

P2093

P2860

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