Varaico: Literature-Extracted Genetic Variants

Gene:SEMA5B
Variant:p.Q128R
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SEMA5B

NM_001031702.4:p.Q128R

Associated Papers

Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.

Liu Y et al.

Bmc Oral Health, 2024

38280992 (PubMed )
Supplement: 12903_2024_3888_MOESM2_ESM.xls › Supplementary_Table_1

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.s005.pdf
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