Keyword Connections

missense variant

Journals

1

1 International journal of molecular sciences

Research Groups

0

No Research Group Connected

Bibliographies

5

1 Rare Human Missense Variants can affect the Function of Disease-Relevant Proteins by Loss and Gain of Peroxisomal Targeting Motifs.

2 Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.

3 Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking.

4 The CYSMA web server: an example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders.

5 novel missense variant in heterozygous state in the brpf1 gene leading to intellectual developmental disorder with dysmorphic facies and ptosis