Varaico: Literature-Extracted Genetic Variants

Gene:HPS3
Variant:p.N623fs
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HPS3

NM_032383.5:p.N623fs

Associated Papers

Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.

Miao M et al.

Bmc Medical Genomics, 2022

35831859 (PubMed )
Supplement: 12920_2022_1311_MOESM1_ESM.xls › filtered_data
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