Variant: rs797045865 

    present in Gene: PAFAH1B1
    present in Chromosome: 17
    Position on Chromosome: 2674088
    Alleles of this Variant: GA/-

rs797045865 in PAFAH1B1 gene and Dysmorphic features PMID 12668601 2003 Lissencephaly and the molecular basis of neuronal migration.

PMID 11502906 2001 LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

PMID 9063735 1997 Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.

PMID 9817918 1998 LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.

PMID 24862549 2014 The genetics of lissencephaly.

PMID 28440899 2017 Lissencephaly: Expanded imaging and clinical classification.

rs797045865 in PAFAH1B1 gene and Overgrowth PMID 9063735 1997 Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.

PMID 9817918 1998 LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.

PMID 11502906 2001 LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

PMID 12668601 2003 Lissencephaly and the molecular basis of neuronal migration.

PMID 24862549 2014 The genetics of lissencephaly.

PMID 28440899 2017 Lissencephaly: Expanded imaging and clinical classification.