Varaico: Literature-Extracted Genetic Variants

Gene:VWDE
Variant:p.F1485C
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VWDE

NM_001135924.3:p.F1485C

Associated Papers

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T1

The genomic landscape of childhood and adolescent melanoma.

Lu C et al.

The Journal of Investigative Dermatology, 2015

25268584 (PubMed )
Supplement: jid2014425x2.xls › Table_S7_All_WES_Tier1.SNV

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s004.pdf
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