Varaico: Literature-Extracted Genetic Variants

Gene:CHSY1
Variant:p.R705Q
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CHSY1

NM_014918.5:p.R705Q

Associated Papers

Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.

He Q et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1

Integrated genomics approach to identify biologically relevant alterations in fewer samples.

Chandrani P et al.

Bmc Genomics, 2015

26572163 (PubMed )
Supplement: 12864_2015_2138_MOESM2_ESM.zip › Pratik_et_al_SI_TableS6_20150910.xlsx › Sheet1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."