Varaico: Literature-Extracted Genetic Variants

Gene:FAM111A
Variant:p.E294G
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FAM111A

NM_001312909.2:p.E294G

Associated Papers

Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome.

Bonde LD et al.

Journal of Human Genetics, 2025

Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2

Eren E et al.

Journal of Clinical Research in Pediatric Endocrinology, 2023

Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA.

Wang Y et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019

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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."