Varaico: Literature-Extracted Genetic Variants

Gene:GALNT1
Variant:p.R142H
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GALNT1

NM_020474.4:p.R142H

Associated Papers

Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts.

Itai T et al.

Hgg Advances, 2024

38807368 (PubMed )
Supplement: mmc2.xlsx › Table_S3

Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.

Awotoye W et al.

Scientific Reports, 2022

35817949 (PubMed )
Supplement: 41598_2022_15885_MOESM1_ESM.pdf
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