KEGG   VARIANT: 5557v1
Entry
5557v1                      Variant                                
Name
PRIM1 mutation
Type
Loss of function
Gene
PRIM1  DNA primase subunit 1 [KO:K02684]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 176635
Network
nt06509  DNA replication
Disease
H02625  Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
Reference
  Authors
Parry DA, Tamayo-Orrego L, Carroll P, Marsh JA, Greene P, Murina O, Uggenti C, Leitch A, Kaposzta R, Mero G, Nagy A, Orlik B, Kovacs-Paszthy B, Quigley AJ, Riszter M, Rankin J, Reijns MAM, Szakszon K, Jackson AP
  Title
PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
  Journal
Genes Dev 34:1520-1533 (2020)
DOI:10.1101/gad.340190.120
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