Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.P253P
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KCNV2

NM_133497.4:p.P253P

Associated Papers

RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas

Zhao L et al.

Genes, 2022

35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S2.The_information_of_annotated_gene_mutations2.xlsx › ___

A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Gatticchi L et al.

Bmc Medical Genetics, 2020

32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete
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