Identification of a novel heterozygous truncation mutation in exon 1 of ARHGAP29 in an Indian subject with nonsyndromic cleft lip with cleft palate.

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Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants.Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

P2860

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P2860

Identification of a novel heterozygous truncation mutation in exon 1 of ARHGAP29 in an Indian subject with nonsyndromic cleft lip with cleft palate.

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http://www.wikidata.org/entity/Q41905296

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2014 nî lūn-bûn

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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2014年论文

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Identification of a novel hete ...... c cleft lip with cleft palate.

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Identification of a novel hete ...... c cleft lip with cleft palate.

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Identification of a novel hete ...... c cleft lip with cleft palate.

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P1476

Identification of a novel hete ...... c cleft lip with cleft palate.

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P2093

Arvind Ramanathan

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Deepak Chandrasekharan

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P2860

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Review on genetic variants and maternal smoking in the etiology of oral clefts and other birth defects

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Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency

Genetic landscape of the people of India: a canvas for disease gene exploration

Characterising and predicting haploinsufficiency in the human genome.

Nicotine inhibits palatal fusion and modulates nicotinic receptors and the PI-3 kinase pathway in medial edge epithelia

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528-532

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10.4103/1305-7456.143637

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269712509

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25512736

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India

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Identification of a novel heterozygous truncation mutation in exon 1 of ARHGAP29 in an Indian subject with nonsyndromic cleft lip with cleft palate.

about

P2860

P2860

Identification of a novel heterozygous truncation mutation in exon 1 of ARHGAP29 in an Indian subject with nonsyndromic cleft lip with cleft palate.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P921

P932