A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia
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DOI: 10.1002/humu.24368
Abstract: BNIP1 (BCL2 interacting protein 1) is a soluble N‐ethylmaleimide‐sensitive factor‐attachment protein receptor involved in ER membrane fusion. We identified the homozygous BNIP1 intronic variant c.84+3A>T in the apparently unrelated patients 1 and 2 with disproportionate… read more here.
Keywords: bnip1; epiphyseal dysplasia; increase; spondylo epiphyseal ... See more keywords