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UnknownHypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis.
Not available
S-EPMC10474257 | biostudies-literature
UnknownOriented scanning is the leading mechanism underlying 5' splice site selection in mammals.
Not available
S-EPMC1557585 | biostudies-literature
UnknownThe role of GHR and IGF1 genes in the genetic determination of African pygmies' short stature.
Not available
S-EPMC3658195 | biostudies-literature
UnknownSyndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.
Not available
S-EPMC1274372 | biostudies-literature
UnknownA common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia.
Not available
S-EPMC1805560 | biostudies-literature
UnknownExpression of SAA1, SAA2 and SAA4 genes in human primary monocytes and monocyte-derived macrophages.
Not available
S-EPMC6524798 | biostudies-literature
UnknownCombinatorial optimization of a CD4-mimetic miniprotein and cocrystal structures with HIV-1 gp120 envelope glycoprotein.
Not available
S-EPMC2625307 | biostudies-literature
UnknownA nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome.
Not available
S-EPMC3322231 | biostudies-literature
UnknownDonor Dependent Variations in Hematopoietic Differentiation among Embryonic and Induced Pluripotent Stem Cell Lines.
Not available
S-EPMC4777368 | biostudies-literature
UnknownLoss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.
Not available
S-EPMC2790569 | biostudies-literature
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