Condition: Pili torti-deafness syndrome
rs121908577
in
BCS1L
gene and
Pili torti-deafness syndrome
PMID 24172246
2013 Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
PMID 17314340
2007 Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
PMID 25525159
2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
PMID 19389488
2009 Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.
rs121908579
in
ZNF142;BCS1L
gene and
Pili torti-deafness syndrome
PMID 24172246
2013 Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
PMID 17314340
2007 Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.