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The functional consequences of those mutations were described in our previous research where we identified them as loss-of-function mutations and defined a tumor suppressive role of MLK4 in colon cancer.
Mutations were described in brackets.
List of genes in which mutations were described to affect the leptin-melanocortin signaling pathway [3, 6, 7, 9, 20, 36 46].
Unless noted otherwise, mutations were described previously [43].
All these mutations were described in association with hyperglycemia.
Numerous reverse transcriptase and protease mutations were described in the viral sequence of these patients.
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Novel deletion, point and intronic splice site mutations are described, along with promoter variation.
Details of sequencing results for mutations are described in Table 4.
Although most of these mutations have been described, the details of construction for some of the mutations are described here for the first time.
Mutations are described using HGVS nomenclature and the positions of mutations and predicted pathogenic events are reported with respect to reference sequence NM_004006.2 for the Dp427m isoform.
Six novel germline mutations are described.
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mutations were characterised
transfers were described
transfer were described
mutations were hitherto
mutations were found
mutations were identified
mutations were selected
mutations were detected
mutations were analyzed
mutations were eliminated
mutations were verified
mutations were confirmed
mutations were made
mutations were observed
mutations were created
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