Varaico: Literature-Extracted Genetic Variants

Gene:CYP4A22
Variant:p.M300delFs
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CYP4A22

NM_001010969.4:p.M300delFs

Associated Papers

Genetic Analysis of Familial Developmental Dysplasia of the Hip Associated With a Heterozygous Variant in the COMP Gene: A Case Report.

Miao Y et al.

Molecular Genetics & Genomic Medicine, 2025

40985600 (PubMed )
Supplement: MGG3-13-e70135-s001.zip › Supplemental_Materials_2 › father.xlsx › Sheet1

Hereditary disorders of vitamin-D metabolism and its receptor.

Lainis V et al.

Hormones (athens, Greece), 2025

Letter to the editor regarding Duan et al, "CYP4A22 loss-of-function causes a new type of vitamin D-dependent rickets (VDDR1C)".

Levine MA et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025

Retraction of: CYP4A22 loss-of-function causes a new type of vitamin D-dependent rickets (VDDR1C).

Unknown Author

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025

CYP4A22 loss-of-function causes a new type of vitamin D-dependent rickets (VDDR1C).

Duan X et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024

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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."