Associated Papers
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.
Chaurasia A et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.
Watts LM et al.
Brain Communications, 2024
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
Schnabel F et al.
Human Genetics, 2023
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